STRIDE-DB

Repeat Length	AFR	AMR	EUR	EAS	SAS	Repeat
5.0	1359	708	1015	1036	991	TCGTCGTCGTCGTCG
1.0	0	1	0	0	0	TCG
1.3	0	0	0	2	0	TCGT
4.0	0	2	4	4	0	TCGTCGTCGTCG
5.3	0	0	1	1	0	TCGTCGTCGTCGTCGT
9.0	0	0	0	0	1	TCGTCGTCGTCGTCGTCGTCGTCGTCG
13.0	2	0	0	0	2	TCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCG
15.0	1	1	0	3	2	TCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCG

Position	Disease/Trait	P-value	SNPs	Location with respect to STR	distance	Study
19:18888150	Body mass index,	6.0E-12	rs78830644	downstream	-8696	Shared Genetic and Experimental Links between Obesity-Related Traits and Asthma Subtypes in UK Biobank.
19:18892728	Osteoarthritis biomarkers,	7.0E-6	rs10038	downstream	-4118	Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
19:18901618	Educational attainment,	2.0E-10	rs35359254	upstream	4772	Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.
19:18906548	Serum levels of protein COMP,	3.0E-16	rs12974746	upstream	9702	A genome-wide association study of serum proteins reveals shared loci with common diseases.
19:18916863	QT interval,	3.0E-6	rs144778694	upstream	20017	GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.
19:18942559	Attention deficit hyperactivity disorder,	3.0E-6	rs2238652	upstream	45713	Genome-Wide Analysis Reveals Four Novel Loci for Attention-Deficit Hyperactivity Disorder in Korean Youths.

Flanking region : 5 kb 10 kb 50 kb

Position	HGVS	dbSNP id	Phenotype List	Distance	Clinvar Significance
19:18853737	NM_015321.3(CRTC1):c.144C>T (p.Ser48=)	rs117770608	not provided	-43109	Likely benign
19:18857904	NM_015321.3(CRTC1):c.423C>T (p.Pro141=)	rs777137375	not provided	-38942	Likely benign
19:18864300	NM_015321.3(CRTC1):c.539-10A>G	rs140269231	not provided	-32546	Benign
19:18868791	NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)	rs864622513	Visceral heterotaxy\|Progressive myoclonic epilepsy type 8	-28055	Conflicting interpretations of pathogenicity
19:18868806	NM_001492.6(GDF1):c.909dup (p.Val304fs)	rs606231383	Right atrial isomerism\|not provided	-28040	Likely pathogenic
19:18868916	NM_001492.6(GDF1):c.800G>A (p.Cys267Tyr)	rs121434423	Double outlet right ventricle	-27930	Pathogenic
19:18869035	NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	rs121434422	Congenital heart defects, multiple types, 6\|Right atrial isomerism\|Progressive myoclonic epilepsy type 8\|not provided	-27811	Pathogenic
19:18869231	NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)	rs121434424	Tetralogy of Fallot\|not provided\|Progressive myoclonic epilepsy type 8	-27615	Conflicting interpretations of pathogenicity
19:18869245	NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup)	rs571387097	not specified\|Visceral heterotaxy\|Progressive myoclonic epilepsy type 8\|not provided	-27601	Benign
19:18869404	NM_001492.6(GDF1):c.326-14T>C	rs4808864	not specified\|not provided\|Progressive myoclonic epilepsy type 8	-27442	Benign
19:18869963	NM_001492.6(GDF1):c.325+20G>A	rs146219830	not specified\|Progressive myoclonic epilepsy type 8	-26883	Benign
19:18870827	NM_015321.3(CRTC1):c.675G>A (p.Pro225=)	rs372512561	not provided	-26019	Likely benign
19:18870998	NM_015321.3(CRTC1):c.846G>A (p.Ala282=)	rs112538945	not provided	-25848	Benign
19:18879050	NM_001492.6(GDF1):c.-422-11C>T	rs2075762	not specified\|not provided\|Progressive myoclonic epilepsy type 8	-17796	Benign
19:18884128	NM_021267.5(CERS1):c.549C>G (p.His183Gln)	rs200024180	Progressive myoclonic epilepsy type 8	-12718	Pathogenic
19:18884248	NM_001492.6(GDF1):c.-894A>G	rs200107216	not specified\|Progressive myoclonic epilepsy type 8	-12598	Benign
19:18888027	NM_015321.3(CRTC1):c.1740T>G (p.Ser580=)	rs144909160	not provided	-8819	Likely benign
19:18893429	Single allele	NA	not provided	-3417	Likely benign
19:18893570	NM_000095.2(COMP):c.*155G>C	rs537572167	Multiple Epiphyseal Dysplasia, Dominant\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-3276	Likely benign
19:18893614	NM_000095.3(COMP):c.*111A>G	rs886054301	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	-3232	Uncertain significance
19:18893633	NM_000095.3(COMP):c.*92G>A	rs9407	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	-3213	Benign/Likely benign
19:18893664	NM_000095.3(COMP):c.*61G>A	NA	not provided	-3182	Benign
19:18893710	NM_000095.3(COMP):c.*15A>G	rs201937857	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-3136	Benign
19:18893724	NM_000095.3(COMP):c.*1G>C	rs77185131	not specified\|Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-3122	Benign
19:18893725	NC_000019.9:g.(?_18893725)_(19312528_?)del	NA	Progressive myoclonic epilepsy type 8	-3121	Uncertain significance
19:18893725	NC_000019.9:g.(?_18893725)_(18902078_?)dup	NA	not provided	-3121	Uncertain significance
19:18893727	NM_000095.3(COMP):c.2272T>C (p.Ter758Gln)	rs2055134120	COMP-related disorders	-3119	Uncertain significance
19:18893732	NM_000095.3(COMP):c.2267A>G (p.Gln756Arg)	rs61752496	not specified\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	-3114	Benign
19:18893736	NM_000095.3(COMP):c.2263C>T (p.Arg755Trp)	NA	not provided	-3110	Likely benign
19:18893737	NM_000095.3(COMP):c.2262G>A (p.Leu754=)	rs150428337	not specified\|not provided	-3109	Benign/Likely benign
19:18893737	NM_000095.3(COMP):c.2262G>A (p.Leu754=)	rs150428337	not specified\|not provided	-3109	Benign/Likely benign
19:18893754	NM_000095.3(COMP):c.2245T>C (p.Tyr749His)	NA	not provided	-3092	Uncertain significance
19:18893757	NM_000095.3(COMP):c.2242G>A (p.Asp748Asn)	NA	not provided	-3089	Uncertain significance
19:18893774	NM_000095.3(COMP):c.2228-3C>T	rs769440522	not provided	-3072	Uncertain significance
19:18893790	NM_000095.3(COMP):c.2228-19G>A	NA	not provided	-3056	Benign
19:18893791	NM_000095.3(COMP):c.2228-20C>T	NA	not provided	-3055	Likely benign
19:18893811	NM_000095.3(COMP):c.2228-40T>C	rs28494505	not specified\|not provided	-3035	Benign
19:18893846	NM_000095.3(COMP):c.2227+18G>A	NA	not provided	-3000	Benign
19:18893856	NM_000095.3(COMP):c.2227+8G>A	rs116499541	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided\|Connective tissue disorder	-2990	Benign/Likely benign
19:18893865	NM_000095.3(COMP):c.2226T>C (p.Asn742=)	rs1555791127	not provided	-2981	Uncertain significance
19:18893867	NM_000095.3(COMP):c.2223dup (p.Asn742fs)	rs869320730	Multiple epiphyseal dysplasia type 1	-2979	Pathogenic
19:18893867	NM_000095.3(COMP):c.2223dup (p.Asn742fs)	rs869320730	Multiple epiphyseal dysplasia type 1	-2979	Pathogenic
19:18893872	NM_000095.3(COMP):c.2219G>A (p.Arg740His)	NA	not provided	-2974	Uncertain significance
19:18893878	NM_000095.3(COMP):c.2213G>A (p.Arg738His)	rs766913050	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-2968	Conflicting interpretations of pathogenicity
19:18893904	NM_000095.3(COMP):c.2187G>A (p.Gln729=)	rs1210238659	not provided	-2942	Uncertain significance
19:18893920	NM_000095.3(COMP):c.2170dup (p.Val724fs)	NA	Multiple epiphyseal dysplasia type 1	-2926	Likely pathogenic
19:18893925	NM_000095.3(COMP):c.2166G>C (p.Leu722=)	NA	not provided	-2921	Likely benign
19:18893935	NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)	rs137852655	Pseudoachondroplasia, severe\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-2911	Likely pathogenic
19:18893935	NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)	rs137852655	Pseudoachondroplasia, severe\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-2911	Likely pathogenic
19:18893936	NM_000095.3(COMP):c.2155G>A (p.Gly719Ser)	rs312262904	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-2910	Pathogenic
19:18893936	NM_000095.3(COMP):c.2155G>A (p.Gly719Ser)	rs312262904	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-2910	Pathogenic
19:18893936	NM_000095.3(COMP):c.2155G>T (p.Gly719Cys)	NA	not provided	-2910	Likely pathogenic
19:18893938	NM_000095.3(COMP):c.2153G>C (p.Arg718Pro)	rs149551600	Multiple epiphyseal dysplasia	-2908	not provided
19:18893938	NM_000095.3(COMP):c.2153G>C (p.Arg718Pro)	rs149551600	Multiple epiphyseal dysplasia	-2908	not provided
19:18893939	NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	rs28936368	Multiple epiphyseal dysplasia type 1\|Carpal tunnel syndrome 2\|not provided\|Multiple epiphyseal dysplasia	-2907	Pathogenic
19:18893939	NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	rs28936368	Multiple epiphyseal dysplasia type 1\|Carpal tunnel syndrome 2\|not provided\|Multiple epiphyseal dysplasia	-2907	Pathogenic
19:18893939	NM_000095.3(COMP):c.2152C>A (p.Arg718=)	rs28936368	not provided\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|Connective tissue disorder	-2907	Benign/Likely benign
19:18893941	NM_000095.3(COMP):c.2150T>G (p.Met717Arg)	rs1601049483	Multiple epiphyseal dysplasia type 1	-2905	Uncertain significance
19:18893958	NM_000095.3(COMP):c.2133G>A (p.Val711=)	NA	not provided	-2888	Likely benign
19:18893999	NM_000095.3(COMP):c.2092C>T (p.Arg698Ter)	NA	not provided	-2847	Uncertain significance
19:18894007	NM_000095.3(COMP):c.2088-4T>C	rs1601049644	not specified	-2839	Likely benign
19:18894903	NM_000095.3(COMP):c.2087+98C>T	NA	not provided	-1943	Benign
19:18894990	NM_000095.3(COMP):c.2087+11C>T	NA	not provided	-1856	Likely benign
19:18895006	NM_000095.3(COMP):c.2082C>T (p.Tyr694=)	NA	not provided	-1840	Likely benign
19:18895023	NM_000095.3(COMP):c.2065C>T (p.Arg689Trp)	NA	not provided	-1823	Uncertain significance
19:18895040	NM_000095.3(COMP):c.2048G>A (p.Arg683His)	NA	Multiple epiphyseal dysplasia type 1	-1806	Uncertain significance
19:18895046	NM_000095.3(COMP):c.2042C>G (p.Ser681Cys)	rs397515513	Multiple epiphyseal dysplasia	-1800	not provided
19:18895046	NM_000095.3(COMP):c.2042C>G (p.Ser681Cys)	rs397515513	Multiple epiphyseal dysplasia	-1800	not provided
19:18895054	NM_000095.3(COMP):c.2034C>T (p.Asp678=)	NA	not provided	-1792	Likely benign
19:18895074	NM_000095.3(COMP):c.2014C>T (p.Arg672Ter)	rs148554460	COMP-related disorders	-1772	Uncertain significance
19:18895076	NM_000095.3(COMP):c.2012C>A (p.Pro671Gln)	rs1457362390	not provided	-1770	Uncertain significance
19:18895095	NM_000095.3(COMP):c.1993C>A (p.Arg665=)	rs370202476	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-1751	Uncertain significance
19:18895095	NM_000095.3(COMP):c.1993C>T (p.Arg665Trp)	rs370202476	not provided	-1751	Uncertain significance
19:18895100	NM_000095.3(COMP):c.1988A>T (p.Gln663Leu)	NA	not provided	-1746	Likely benign
19:18895107	NM_000095.3(COMP):c.1981G>A (p.Glu661Lys)	rs372414886	not provided	-1739	Uncertain significance
19:18895109	NM_000095.3(COMP):c.1979C>G (p.Thr660Arg)	rs150534218	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	-1737	Conflicting interpretations of pathogenicity
19:18895110	NM_000095.3(COMP):c.1978A>G (p.Thr660Ala)	NA	not provided	-1736	Uncertain significance
19:18895131	NM_000095.3(COMP):c.1957G>A (p.Ala653Thr)	NA	not provided	-1715	Uncertain significance
19:18895132	NM_000095.3(COMP):c.1956C>T (p.Asn652=)	rs10421797	not provided\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|Connective tissue disorder	-1714	Benign/Likely benign
19:18895134	NM_000095.3(COMP):c.1954A>G (p.Asn652Asp)	rs763030013	not provided	-1712	Uncertain significance
19:18895150	NM_000095.3(COMP):c.1938C>T (p.Pro646=)	NA	not provided	-1696	Likely benign
19:18895164	NM_000095.3(COMP):c.1924T>A (p.Ser642Thr)	NA	not provided	-1682	Uncertain significance
19:18895218	NM_000095.3(COMP):c.1915-45C>T	rs12327738	not specified\|not provided	-1628	Benign
19:18895269	NM_000095.3(COMP):c.1915-96C>T	NA	not provided	-1577	Likely benign
19:18895370	NM_000095.3(COMP):c.1915-197C>T	NA	not provided	-1476	Benign
19:18895726	NM_000095.3(COMP):c.1894G>A (p.Glu632Lys)	rs144170209	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-1120	Uncertain significance
19:18895737	NM_000095.3(COMP):c.1883G>C (p.Arg628Pro)	NA	not provided	-1109	Uncertain significance
19:18895738	NM_000095.3(COMP):c.1882C>T (p.Arg628Cys)	NA	not provided	-1108	Uncertain significance
19:18895748	NM_000095.3(COMP):c.1872G>A (p.Ala624=)	rs200802161	not provided	-1098	Likely benign
19:18895749	NM_000095.3(COMP):c.1871C>T (p.Ala624Val)	NA	not provided	-1097	Uncertain significance
19:18895750	NM_000095.3(COMP):c.1870G>A (p.Ala624Thr)	NA	not provided	-1096	Uncertain significance
19:18895784	NM_000095.3(COMP):c.1836C>G (p.Val612=)	rs886054302	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	-1062	Uncertain significance
19:18895790	NM_000095.3(COMP):c.1830C>T (p.Tyr610=)	rs147854039	not provided	-1056	Benign
19:18895791	NM_000095.3(COMP):c.1829A>G (p.Tyr610Cys)	rs753297721	Inborn genetic diseases	-1055	Uncertain significance
19:18895807	NM_000095.3(COMP):c.1813G>A (p.Asp605Asn)	rs397515512	Multiple epiphyseal dysplasia	-1039	not provided
19:18895807	NM_000095.3(COMP):c.1813G>A (p.Asp605Asn)	rs397515512	Multiple epiphyseal dysplasia	-1039	not provided
19:18895809	NM_000095.3(COMP):c.1811A>G (p.Gln604Arg)	NA	not provided	-1037	Uncertain significance
19:18895817	NM_000095.3(COMP):c.1803T>C (p.Phe601=)	rs753120962	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-1029	Uncertain significance
19:18895839	NM_001492.6(GDF1):c.-1089T>C	rs113536478	not specified\|Progressive myoclonic epilepsy type 8\|not provided	-1007	Benign
19:18895860	NM_000095.3(COMP):c.1760A>G (p.His587Arg)	rs312262901	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-986	Likely pathogenic
19:18895860	NM_000095.3(COMP):c.1760A>G (p.His587Arg)	rs312262901	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-986	Likely pathogenic
19:18895865	NM_000095.3(COMP):c.1755G>T (p.Thr585=)	rs34467947	not specified	-981	Likely benign
19:18895865	NM_000095.3(COMP):c.1755G>A (p.Thr585=)	rs34467947	not specified\|Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-981	Benign
19:18895866	NM_000095.3(COMP):c.1754C>A (p.Thr585Lys)	rs312262900	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-980	Pathogenic
19:18895866	NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	rs312262900	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia	-980	Pathogenic
19:18895866	NM_000095.3(COMP):c.1754C>T (p.Thr585Met)	rs312262900	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided\|Multiple epiphyseal dysplasia	-980	Pathogenic
19:18895866	NM_000095.3(COMP):c.1754C>A (p.Thr585Lys)	rs312262900	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-980	Pathogenic
19:18895866	NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	rs312262900	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia	-980	Pathogenic
19:18895866	NM_000095.3(COMP):c.1754C>T (p.Thr585Met)	rs312262900	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided\|Multiple epiphyseal dysplasia	-980	Pathogenic
19:18895873	NM_000095.3(COMP):c.1747G>A (p.Glu583Lys)	rs312262899	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-973	Pathogenic
19:18895873	NM_000095.3(COMP):c.1747G>A (p.Glu583Lys)	rs312262899	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-973	Pathogenic
19:18895880	NM_000095.3(COMP):c.1740G>A (p.Val580=)	rs1488358695	not provided	-966	Benign
19:18895883	NM_000095.3(COMP):c.1737C>T (p.Gly579=)	rs1568554284	not provided	-963	Uncertain significance
19:18896045	NM_000095.3(COMP):c.1718-143G>T	NA	not provided	-801	Benign
19:18896087	NM_000095.3(COMP):c.1718-185G>C	NA	not provided	-759	Benign
19:18896334	NM_000095.3(COMP):c.1691T>C (p.Met564Thr)	NA	not provided	-512	Uncertain significance
19:18896345	NM_000095.3(COMP):c.1680C>A (p.Ile560=)	NA	not provided	-501	Likely benign
19:18896350	NM_000095.3(COMP):c.1675G>A (p.Glu559Lys)	rs1568554484	not provided	-496	Likely pathogenic
19:18896374	NM_000095.3(COMP):c.1669-20_1669-18del	NA	not provided	-472	Likely benign
19:18896463	NM_000095.3(COMP):c.1668+20G>T	NA	not provided	-383	Benign
19:18896470	NM_000095.3(COMP):c.1668+13T>A	rs74432818	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	-376	Benign/Likely benign
19:18896470	NM_000095.3(COMP):c.1668+13T>G	rs74432818	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-376	Benign
19:18896485	NM_000095.3(COMP):c.1666C>T (p.Gln556Ter)	NA	not provided	-361	Uncertain significance
19:18896486	NM_000095.3(COMP):c.1665C>A (p.Asn555Lys)	rs397515511	Multiple epiphyseal dysplasia	-360	not provided
19:18896486	NM_000095.3(COMP):c.1665C>A (p.Asn555Lys)	rs397515511	Multiple epiphyseal dysplasia	-360	not provided
19:18896509	NM_000095.3(COMP):c.1642G>C (p.Asp548His)	rs2055160733	not provided	-337	Likely benign
19:18896517	NM_000095.3(COMP):c.1634C>T (p.Ala545Val)	NA	not provided	-329	Uncertain significance
19:18896519	NM_000095.3(COMP):c.1632C>A (p.Asp544Glu)	NA	not provided	-327	Uncertain significance
19:18896530	NM_000095.3(COMP):c.1621C>G (p.Pro541Ala)	rs1451255197	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	-316	Uncertain significance
19:18896561	NM_000095.3(COMP):c.1590C>A (p.Asp530Glu)	rs759687021	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	-285	Uncertain significance
19:18896565	NM_000095.3(COMP):c.1586C>T (p.Thr529Ile)	rs312262903	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-281	Uncertain significance
19:18896565	NM_000095.3(COMP):c.1586C>T (p.Thr529Ile)	rs312262903	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	-281	Uncertain significance
19:18896565	NM_000095.3(COMP):c.1581_1586del (p.Leu528_Thr529del)	NA	not provided	-281	Uncertain significance
19:18896570	NM_000095.3(COMP):c.1581G>A (p.Thr527=)	NA	not provided\|Connective tissue disorder	-276	Conflicting interpretations of pathogenicity
19:18896572	NM_000095.3(COMP):c.1579A>G (p.Thr527Ala)	NA	not provided	-274	Likely pathogenic
19:18896582	NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)	rs137852654	Multiple epiphyseal dysplasia type 1\|not provided\|Multiple epiphyseal dysplasia	-264	Pathogenic/Likely pathogenic
19:18896582	NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)	rs137852654	Multiple epiphyseal dysplasia type 1\|not provided\|Multiple epiphyseal dysplasia	-264	Pathogenic/Likely pathogenic
19:18896582	NM_000095.3(COMP):c.1569C>A (p.Asn523Lys)	rs137852654	not provided	-264	Pathogenic/Likely pathogenic
19:18896583	NM_000095.3(COMP):c.1568A>G (p.Asn523Ser)	rs750363391	not provided	-263	Uncertain significance
19:18896588	NM_000095.3(COMP):c.1563G>A (p.Pro521=)	NA	not provided	-258	Uncertain significance
19:18896598	NM_000095.3(COMP):c.1553A>G (p.Asp518Gly)	NA	not provided	-248	Pathogenic
19:18896599	NM_000095.3(COMP):c.1552G>C (p.Asp518His)	rs1359984033	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-247	Pathogenic
19:18896606	NM_000095.3(COMP):c.1545C>G (p.Asp515Glu)	rs2055161717	not provided	-240	Pathogenic
19:18896618	NM_000095.3(COMP):c.1533C>G (p.Asp511Glu)	rs1064794293	not provided	-228	Pathogenic/Likely pathogenic
19:18896619	NM_000095.3(COMP):c.1532A>T (p.Asp511Val)	rs2055161863	not provided	-227	Uncertain significance
19:18896625	NM_000095.3(COMP):c.1526A>T (p.Asp509Val)	NA	not provided	-221	Pathogenic
19:18896630	NM_000095.3(COMP):c.1521C>G (p.Asp507Glu)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-216	Likely pathogenic
19:18896630	NM_000095.3(COMP):c.1521C>A (p.Asp507Glu)	NA	Connective tissue disorder	-216	Uncertain significance
19:18896631	NM_000095.3(COMP):c.1520A>G (p.Asp507Gly)	NA	not provided	-215	Pathogenic
19:18896633	NM_000095.3(COMP):c.1518C>T (p.Asp506=)	rs149083265	not provided	-213	Likely benign
19:18896645	NM_000095.3(COMP):c.1506C>T (p.Asp502=)	rs759913580	not provided	-201	Likely benign
19:18896648	NM_000095.3(COMP):c.1503C>T (p.Gly501=)	NA	not provided	-198	Uncertain significance
19:18896649	NM_000095.3(COMP):c.1502G>A (p.Gly501Asp)	rs1555791425	not provided	-197	Pathogenic/Likely pathogenic
19:18896650	NM_000095.3(COMP):c.1501G>A (p.Gly501Ser)	NA	Multiple epiphyseal dysplasia\|Multiple epiphyseal dysplasia type 1	-196	Likely pathogenic
19:18896655	NM_000095.3(COMP):c.1496G>T (p.Gly499Val)	NA	not provided	-191	Uncertain significance
19:18896666	NM_000095.3(COMP):c.1490-5C>T	rs760607070	not provided	-180	Likely benign
19:18896768	NM_000095.3(COMP):c.1489+7C>G	NA	not provided	-78	Likely benign
19:18896773	NM_000095.3(COMP):c.1489+2T>A	rs1131692038	Multiple epiphyseal dysplasia type 1;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-73	Uncertain significance
19:18896776	NM_000095.3(COMP):c.1488C>A (p.Asp496Glu)	rs143714206	not specified\|not provided	-70	Benign/Likely benign
19:18896783	NM_000095.3(COMP):c.1481A>G (p.Asp494Gly)	NA	not provided	-63	Uncertain significance
19:18896789	NM_000095.3(COMP):c.1475A>C (p.Gln492Pro)	NA	not provided	-57	Likely pathogenic
19:18896793	NM_000095.3(COMP):c.1471G>A (p.Gly491Ser)	NA	not provided	-53	Uncertain significance
19:18896795	NM_000095.3(COMP):c.1469C>G (p.Pro490Arg)	NA	not provided	-51	Uncertain significance
19:18896796	NM_000095.3(COMP):c.1468C>A (p.Pro490Thr)	NA	not provided	-50	Uncertain significance
19:18896797	NM_000095.3(COMP):c.1467C>A (p.Asn489Lys)	NA	not provided	-49	Pathogenic
19:18896810	NM_000095.3(COMP):c.1454G>A (p.Arg485His)	rs2055164177	Multiple epiphyseal dysplasia type 1	-36	Uncertain significance
19:18896819	NM_000095.3(COMP):c.1445A>T (p.Asp482Val)	rs2055164276	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-27	Likely pathogenic
19:18896820	NM_000095.3(COMP):c.1444G>A (p.Asp482Asn)	NA	not provided	-26	Likely pathogenic
19:18896822	NM_000095.3(COMP):c.1442G>A (p.Arg481Gln)	NA	not provided	-24	Uncertain significance
19:18896823	NM_000095.3(COMP):c.1441C>T (p.Arg481Trp)	NA	not provided	-23	Uncertain significance
19:18896829	NM_000095.3(COMP):c.1435G>C (p.Asp479His)	NA	not provided	-17	Uncertain significance
19:18896835	NM_000095.3(COMP):c.1429G>A (p.Val477Ile)	NA	not provided	-11	Uncertain significance
19:18896843	NM_000095.3(COMP):c.1416_1421del (p.Asn474_Asp475del)	rs2055164523	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-3	Likely pathogenic
19:18896844	NM_000095.3(COMP):c.1405GAC[7] (p.Asp472_Asp473dup)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-2	Pathogenic
19:18896844	NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided\|Multiple epiphyseal dysplasia	-2	Pathogenic/Likely pathogenic
19:18896844	NM_000095.3(COMP):c.1405GAC[7] (p.Asp472_Asp473dup)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	-2	Pathogenic
19:18896844	NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided\|Multiple epiphyseal dysplasia	-2	Pathogenic/Likely pathogenic
19:18896845	NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del)	rs193922900	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided\|Multiple epiphyseal dysplasia type 1	-1	Pathogenic
19:18896845	NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del)	rs193922900	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided\|Multiple epiphyseal dysplasia type 1	-1	Pathogenic
19:18896846	NM_000095.3(COMP):c.1418A>G (p.Asp473Gly)	rs28936669	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	0	Pathogenic
19:18896846	NM_000095.3(COMP):c.1418A>G (p.Asp473Gly)	rs28936669	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	0	Pathogenic
19:18896850	NM_000095.3(COMP):c.1414G>T (p.Asp472Tyr)	rs137852650	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	4	Pathogenic
19:18896850	NM_000095.3(COMP):c.1414G>T (p.Asp472Tyr)	rs137852650	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	4	Pathogenic
19:18896850	NM_000095.3(COMP):c.1414G>C (p.Asp472His)	NA	not provided	4	Pathogenic
19:18896858	NM_000095.3(COMP):c.1406A>T (p.Asp469Val)	rs766950514	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	12	Uncertain significance
19:18896860	NM_000095.3(COMP):c.1404C>T (p.Cys468=)	rs375031149	not provided	14	Likely benign
19:18896860	NM_000095.3(COMP):c.1404C>G (p.Cys468Trp)	NA	not provided	14	Uncertain significance
19:18896861	NM_000095.3(COMP):c.1403G>A (p.Cys468Tyr)	rs137852651	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not specified	15	Uncertain significance
19:18896861	NM_000095.3(COMP):c.1403G>A (p.Cys468Tyr)	rs137852651	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not specified	15	Uncertain significance
19:18896861	NM_000095.3(COMP):c.1403G>C (p.Cys468Ser)	rs137852651	Multiple epiphyseal dysplasia type 1	15	Likely pathogenic
19:18896861	NM_000095.3(COMP):c.1403G>T (p.Cys468Phe)	NA	Abnormality of the skeletal system	15	Pathogenic
19:18896870	NM_000095.3(COMP):c.1394G>T (p.Gly465Val)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	24	Likely pathogenic
19:18896871	NM_000095.3(COMP):c.1393G>A (p.Gly465Ser)	NA	not provided	25	Likely pathogenic
19:18896882	NM_000095.3(COMP):c.1382A>C (p.His461Pro)	NA	not provided	36	Uncertain significance
19:18896887	NM_000095.3(COMP):c.1375_1377del (p.Ser459del)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	41	Pathogenic
19:18896887	NM_000095.3(COMP):c.1375_1377del (p.Ser459del)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	41	Pathogenic
19:18896891	NM_000095.3(COMP):c.1368GGA[1] (p.Glu457del)	rs1601053887	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	45	Pathogenic/Likely pathogenic
19:18896897	NM_000095.3(COMP):c.1367A>C (p.Gln456Pro)	NA	Multiple epiphyseal dysplasia type 1	51	Likely pathogenic
19:18896905	NM_000095.3(COMP):c.1359C>G (p.Asn453Lys)	NA	not provided	59	Likely pathogenic
19:18896906	NM_000095.3(COMP):c.1358A>G (p.Asn453Ser)	rs28936668	Epiphyseal dysplasia, multiple, 1, severe	60	Pathogenic
19:18896906	NM_000095.3(COMP):c.1358A>G (p.Asn453Ser)	rs28936668	Epiphyseal dysplasia, multiple, 1, severe	60	Pathogenic
19:18896928	NM_000095.3(COMP):c.1336G>C (p.Asp446His)	NA	not provided	82	Likely pathogenic
19:18896930	NM_000095.3(COMP):c.1334G>A (p.Arg445Gln)	rs777939991	not provided	84	Uncertain significance
19:18896933	NM_000095.3(COMP):c.1331C>G (p.Ser444Cys)	NA	not provided\|Connective tissue disorder	87	Uncertain significance
19:18896942	NM_000095.3(COMP):c.1322A>G (p.His441Arg)	rs1131691682	not provided	96	Likely pathogenic
19:18896945	NM_000095.3(COMP):c.1319G>A (p.Gly440Glu)	NA	not provided	99	Pathogenic
19:18896946	NM_000095.3(COMP):c.1318G>C (p.Gly440Arg)	rs1601053997	not specified\|not provided	100	Pathogenic/Likely pathogenic
19:18896946	NM_000095.3(COMP):c.1318G>A (p.Gly440Arg)	NA	not provided	100	Pathogenic
19:18896947	NM_000095.3(COMP):c.1317C>G (p.Asp439Glu)	NA	not provided	101	Likely pathogenic
19:18896948	NM_000095.3(COMP):c.1311_1316del (p.437DG[1])	NA	not provided	102	Uncertain significance
19:18896949	NM_000095.3(COMP):c.1315G>A (p.Asp439Asn)	rs1601054002	Multiple epiphyseal dysplasia type 1	103	Likely pathogenic
19:18896949	NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr)	rs1601054002	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	103	Pathogenic/Likely pathogenic
19:18896955	NM_000095.3(COMP):c.1309G>A (p.Asp437Asn)	rs2055165476	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided\|Multiple epiphyseal dysplasia type 1	109	Conflicting interpretations of pathogenicity
19:18896955	NM_000095.3(COMP):c.1309G>T (p.Asp437Tyr)	NA	not provided\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	109	Conflicting interpretations of pathogenicity
19:18896955	NM_000095.3(COMP):c.1309G>C (p.Asp437His)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	109	Pathogenic
19:18897052	NM_000095.3(COMP):c.1304A>T (p.Asp435Val)	NA	not provided	206	Likely pathogenic
19:18897065	NM_000095.3(COMP):c.1279_1291del (p.Gly427fs)	rs878853098	not provided	219	Likely pathogenic
19:18897065	NM_000095.3(COMP):c.1279_1291del (p.Gly427fs)	rs878853098	not provided	219	Likely pathogenic
19:18897076	NM_000095.3(COMP):c.1280G>A (p.Gly427Glu)	NA	not provided	230	Pathogenic
19:18897077	NM_000095.3(COMP):c.1279G>C (p.Gly427Arg)	NA	not provided	231	Likely pathogenic
19:18897077	NM_000095.3(COMP):c.1279G>A (p.Gly427Arg)	NA	not provided	231	Likely pathogenic
19:18897088	NM_000095.3(COMP):c.1268A>C (p.His423Pro)	NA	not provided	242	Uncertain significance
19:18897091	NM_000095.3(COMP):c.1265A>C (p.Asp422Ala)	rs1568554988	Multiple epiphyseal dysplasia type 1	245	Likely pathogenic
19:18897091	NM_000095.3(COMP):c.1265A>G (p.Asp422Gly)	NA	not provided	245	Uncertain significance
19:18897103	NM_000095.3(COMP):c.1255-2A>T	rs2055166850	not provided	257	Uncertain significance
19:18897106	NM_000095.3(COMP):c.1255-5C>T	rs201124517	not provided	260	Benign/Likely benign
19:18897127	NM_000095.3(COMP):c.1255-26G>A	rs1555791472	not provided	281	Uncertain significance
19:18897180	NM_000095.3(COMP):c.1255-79G>A	NA	not provided	334	Likely benign
19:18897324	NM_000095.3(COMP):c.1254+18T>C	NA	not provided	478	Likely benign
19:18897347	NM_000095.3(COMP):c.1249G>T (p.Asp417Tyr)	NA	not provided	501	Uncertain significance
19:18897348	NM_000095.3(COMP):c.1248G>A (p.Pro416=)	rs368715216	not provided	502	Likely benign
19:18897349	NM_000095.3(COMP):c.1247C>T (p.Pro416Leu)	rs764546396	not provided	503	Uncertain significance
19:18897349	NM_000095.3(COMP):c.1247C>A (p.Pro416Gln)	rs764546396	not provided	503	Uncertain significance
19:18897356	NM_000095.3(COMP):c.1240A>C (p.Ser414Arg)	NA	not provided	510	Uncertain significance
19:18897357	NM_000095.3(COMP):c.1239G>A (p.Lys413=)	NA	not provided	511	Likely benign
19:18897367	NM_000095.3(COMP):c.1229G>A (p.Cys410Tyr)	NA	not provided	521	Pathogenic
19:18897368	NM_000095.3(COMP):c.1228T>G (p.Cys410Gly)	NA	Multiple epiphyseal dysplasia type 1	522	Likely pathogenic
19:18897368	NM_000095.3(COMP):c.1228T>C (p.Cys410Arg)	NA	not provided	522	Likely pathogenic
19:18897374	NM_000095.3(COMP):c.1222G>C (p.Asp408His)	rs886042932	not provided	528	Uncertain significance
19:18897374	NM_000095.3(COMP):c.1222G>A (p.Asp408Asn)	rs886042932	not provided	528	Likely pathogenic
19:18897386	NM_000095.3(COMP):c.1210G>A (p.Gly404Arg)	rs2055168912	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	540	Likely pathogenic
19:18897395	NM_000095.3(COMP):c.1201G>C (p.Asp401His)	rs2055169002	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	549	Likely pathogenic
19:18897395	NM_000095.3(COMP):c.1201G>A (p.Asp401Asn)	rs2055169002	not provided	549	Pathogenic/Likely pathogenic
19:18897395	NM_000095.3(COMP):c.1201G>T (p.Asp401Tyr)	NA	Multiple epiphyseal dysplasia type 1	549	Likely pathogenic
19:18897396	NM_000095.3(COMP):c.1200C>T (p.Gly400=)	rs201063220	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	550	Conflicting interpretations of pathogenicity
19:18897400	NM_000095.3(COMP):c.1196A>T (p.Asp399Val)	NA	not provided	554	Uncertain significance
19:18897401	NM_000095.3(COMP):c.1195G>A (p.Asp399Asn)	rs1555791490	not provided	555	Likely pathogenic
19:18897406	NM_000095.3(COMP):c.1190A>T (p.Asp397Val)	NA	not provided	560	Likely pathogenic
19:18897407	NM_000095.3(COMP):c.1189G>C (p.Asp397His)	NA	not provided	561	Likely pathogenic
19:18897436	NM_000095.3(COMP):c.1160G>T (p.Cys387Phe)	rs2055169279	not provided	590	Uncertain significance
19:18897438	NM_000095.3(COMP):c.1156_1158del (p.Asn386del)	rs397515510	Multiple epiphyseal dysplasia	592	not provided
19:18897438	NM_000095.3(COMP):c.1156_1158del (p.Asn386del)	rs397515510	Multiple epiphyseal dysplasia	592	not provided
19:18897440	NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)	rs61739916	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not specified\|not provided\|Connective tissue disorder	594	Benign
19:18897440	NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)	rs61739916	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not specified\|not provided\|Connective tissue disorder	594	Benign
19:18897441	NM_000095.3(COMP):c.1153_1155del (p.Asp385del)	NA	not provided	595	Likely pathogenic
19:18897443	NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr)	rs1601054715	Multiple epiphyseal dysplasia type 1	597	Pathogenic
19:18897443	NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)	rs1601054715	not provided\|Multiple epiphyseal dysplasia type 1\|Multiple epiphyseal dysplasia	597	Pathogenic/Likely pathogenic
19:18897448	NM_000095.3(COMP):c.1148A>G (p.Gln383Arg)	rs1221968769	not specified\|not provided	602	Uncertain significance
19:18897452	NM_000095.3(COMP):c.1136-1_1144del	NA	not provided	606	Likely pathogenic
19:18897460	NM_000095.3(COMP):c.1136G>A (p.Arg379Gln)	NA	not provided	614	Uncertain significance
19:18897526	NM_000095.3(COMP):c.1136-68dup	NA	not provided	680	Benign
19:18897572	NM_000095.3(COMP):c.1136-142_1136-140dup	NA	not provided	726	Benign
19:18897573	NM_000095.3(COMP):c.1136-114del	NA	not provided	727	Likely benign
19:18897573	NM_000095.3(COMP):c.1136-127_1136-114del	NA	not provided	727	Benign
19:18897573	NM_000095.3(COMP):c.1136-118_1136-114del	NA	not provided	727	Benign
19:18897573	NM_000095.3(COMP):c.1136-119_1136-114del	NA	not provided	727	Benign
19:18897995	NM_000095.3(COMP):c.1135+305C>T	NA	not provided	1149	Likely benign
19:18898303	NM_000095.3(COMP):c.1132G>A (p.Asp378Asn)	NA	not provided	1457	Pathogenic
19:18898308	NM_000095.3(COMP):c.1127A>T (p.Asp376Val)	NA	not provided	1462	Likely pathogenic
19:18898309	NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr)	rs1555791556	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Multiple epiphyseal dysplasia type 1	1463	Likely pathogenic
19:18898309	NM_000095.3(COMP):c.1126G>C (p.Asp376His)	NA	not provided	1463	Pathogenic
19:18898309	NM_000095.3(COMP):c.1126G>A (p.Asp376Asn)	NA	Multiple epiphyseal dysplasia type 1	1463	Likely pathogenic
19:18898313	NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del)	NA	not provided\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	1467	Pathogenic
19:18898322	NM_000095.3(COMP):c.1113C>G (p.Cys371Trp)	NA	not provided	1476	Likely pathogenic
19:18898323	NM_000095.3(COMP):c.1112G>A (p.Cys371Tyr)	rs1057521130	not provided	1477	Likely pathogenic
19:18898324	NM_000095.3(COMP):c.1111T>C (p.Cys371Arg)	NA	not provided	1478	Likely pathogenic
19:18898325	NM_000095.3(COMP):c.1110G>A (p.Ala370=)	rs780972997	not provided	1479	Conflicting interpretations of pathogenicity
19:18898331	NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del)	NA	Multiple epiphyseal dysplasia	1485	not provided
19:18898338	NM_000095.3(COMP):c.1096_1097insATGCGT (p.Gly366delinsAspAlaCys)	NA	not provided	1492	Uncertain significance
19:18898363	NM_000095.3(COMP):c.1072G>T (p.Asp358Tyr)	rs748625870	not provided	1517	Uncertain significance
19:18898367	NM_000095.3(COMP):c.1068C>G (p.Asn356Lys)	NA	not provided	1521	Uncertain significance
19:18898376	NM_000095.3(COMP):c.1059C>T (p.Ser353=)	NA	not provided	1530	Likely benign
19:18898384	NM_000095.3(COMP):c.1051T>C (p.Cys351Arg)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	1538	Likely pathogenic
19:18898390	NM_000095.3(COMP):c.1045G>A (p.Asp349Asn)	NA	not provided	1544	Pathogenic
19:18898391	NM_000095.3(COMP):c.1044C>A (p.Cys348Ter)	rs199732560	not provided	1545	Uncertain significance
19:18898392	NM_000095.3(COMP):c.1043G>A (p.Cys348Tyr)	NA	not provided	1546	Likely pathogenic
19:18898393	NM_000095.3(COMP):c.1042T>C (p.Cys348Arg)	rs137852656	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	1547	Pathogenic
19:18898393	NM_000095.3(COMP):c.1042T>C (p.Cys348Arg)	rs137852656	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	1547	Pathogenic
19:18898403	NM_000095.3(COMP):c.1032G>A (p.Trp344Ter)	NA	not provided	1557	Uncertain significance
19:18898409	NM_000095.3(COMP):c.1021_1026del (p.Glu341_Asp342del)	rs1064794294	not provided	1563	Pathogenic/Likely pathogenic
19:18898411	NM_000095.3(COMP):c.1024G>T (p.Asp342Tyr)	rs137852652	Epiphyseal dysplasia, multiple, 1, severe	1565	Pathogenic
19:18898411	NM_000095.3(COMP):c.1024G>T (p.Asp342Tyr)	rs137852652	Epiphyseal dysplasia, multiple, 1, severe	1565	Pathogenic
19:18898414	NM_000095.3(COMP):c.1021G>A (p.Glu341Lys)	NA	not provided	1568	Uncertain significance
19:18898421	NM_000095.3(COMP):c.1000_1014del (p.Pro334_Asn338del)	rs1601055900	not specified	1575	Likely pathogenic
19:18898441	NM_000095.3(COMP):c.994C>A (p.Arg332=)	rs766335907	not provided	1595	Benign
19:18898451	NM_000095.3(COMP):c.984C>G (p.Cys328Trp)	rs1601055923	not provided	1605	Likely pathogenic
19:18898452	NM_000095.3(COMP):c.983G>T (p.Cys328Phe)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	1606	Likely pathogenic
19:18898453	NM_000095.3(COMP):c.982T>C (p.Cys328Arg)	rs137852653	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	1607	Pathogenic
19:18898453	NM_000095.3(COMP):c.982T>C (p.Cys328Arg)	rs137852653	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	1607	Pathogenic
19:18898459	NM_000095.3(COMP):c.976G>A (p.Asp326Asn)	NA	Multiple epiphyseal dysplasia type 1	1613	Pathogenic
19:18898527	NM_000095.3(COMP):c.917_976-68del	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	1681	Pathogenic
19:18898527	NM_000095.3(COMP):c.917_976-68del	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	1681	Pathogenic
19:18898675	NM_000095.3(COMP):c.976-219_976-218dup	NA	not provided	1829	Benign
19:18898675	NM_000095.3(COMP):c.976-216G>A	NA	not provided	1829	Benign
19:18898679	NM_000095.3(COMP):c.976-223_976-222dup	NA	not provided	1833	Benign
19:18898682	NM_000095.3(COMP):c.976-224_976-223del	NA	not provided	1836	Likely benign
19:18898682	NM_000095.3(COMP):c.976-228_976-223del	NA	not provided	1836	Likely benign
19:18898682	NM_000095.3(COMP):c.976-236_976-223del	NA	not provided	1836	Likely benign
19:18898682	NM_000095.3(COMP):c.976-244_976-223del	NA	not provided	1836	Likely benign
19:18898682	NM_000095.3(COMP):c.976-240_976-223del	NA	not provided	1836	Benign
19:18898786	NM_000095.3(COMP):c.975+235C>G	NA	not provided	1940	Benign
19:18899011	NM_000095.3(COMP):c.975+10C>T	rs1451106951	not specified	2165	Likely benign
19:18899022	NM_000095.3(COMP):c.974A>T (p.Lys325Met)	NA	not provided	2176	Uncertain significance
19:18899028	NM_000095.3(COMP):c.968A>G (p.Asn323Ser)	NA	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	2182	Uncertain significance
19:18899040	NM_000095.3(COMP):c.956A>T (p.Asp319Val)	rs1057517970	not specified	2194	Uncertain significance
19:18899041	NM_000095.3(COMP):c.954_955delinsTT (p.Asp319Tyr)	rs886042963	not provided	2195	Uncertain significance
19:18899041	NM_000095.3(COMP):c.955G>A (p.Asp319Asn)	NA	not provided	2195	Uncertain significance
19:18899045	NM_000095.3(COMP):c.951C>A (p.Asp317Glu)	NA	not provided	2199	Likely benign
19:18899046	NM_000095.3(COMP):c.950A>T (p.Asp317Val)	rs1601057057	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2200	Likely pathogenic
19:18899047	NM_000095.3(COMP):c.949G>A (p.Asp317Asn)	NA	not provided	2201	Likely pathogenic
19:18899047	NM_000095.3(COMP):c.949G>T (p.Asp317Tyr)	NA	Multiple epiphyseal dysplasia type 1	2201	Likely pathogenic
19:18899062	NM_000095.3(COMP):c.934T>C (p.Cys312Arg)	rs2055184290	not provided	2216	Uncertain significance
19:18899067	NM_000095.3(COMP):c.929A>T (p.Asp310Val)	NA	not provided	2221	Uncertain significance
19:18899071	NM_000095.3(COMP):c.925G>A (p.Gly309Arg)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2225	Pathogenic
19:18899072	NM_000095.3(COMP):c.924C>T (p.Ile308=)	rs199596155	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2226	Benign/Likely benign
19:18899078	NM_000095.3(COMP):c.918T>C (p.Asp306=)	NA	not provided	2232	Likely benign
19:18899091	NM_000095.3(COMP):c.905A>G (p.Asp302Gly)	rs1248996138	not provided	2245	Uncertain significance
19:18899091	NM_000095.3(COMP):c.905A>T (p.Asp302Val)	NA	not provided	2245	Pathogenic
19:18899101	NM_000095.3(COMP):c.895G>A (p.Gly299Arg)	NA	not provided	2255	Pathogenic
19:18899105	NM_000095.3(COMP):c.891C>A (p.Asn297Lys)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2259	Likely pathogenic
19:18899109	NM_000095.3(COMP):c.887C>G (p.Pro296Arg)	rs1601057167	Multiple epiphyseal dysplasia type 1	2263	Likely pathogenic
19:18899109	NM_000095.3(COMP):c.887C>T (p.Pro296Leu)	NA	not provided	2263	Uncertain significance
19:18899110	NM_000095.3(COMP):c.886C>T (p.Pro296Ser)	NA	Multiple epiphyseal dysplasia type 1	2264	Pathogenic
19:18899120	NM_000095.3(COMP):c.876C>A (p.Cys292Ter)	rs923884041	COMP-related disorders	2274	Uncertain significance
19:18899121	NM_000095.3(COMP):c.875G>T (p.Cys292Phe)	rs886041607	not provided	2275	Pathogenic
19:18899121	NM_000095.3(COMP):c.875G>A (p.Cys292Tyr)	rs886041607	not provided	2275	Uncertain significance
19:18899122	NM_000095.3(COMP):c.874T>C (p.Cys292Arg)	rs2055184939	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	2276	Pathogenic/Likely pathogenic
19:18899127	NM_000095.3(COMP):c.869A>G (p.Asp290Gly)	rs1568556118	not provided	2281	Uncertain significance
19:18899128	NM_000095.3(COMP):c.868G>T (p.Asp290Tyr)	NA	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2282	Pathogenic
19:18899132	NM_000095.3(COMP):c.868-4C>T	rs529806631	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	2286	Conflicting interpretations of pathogenicity
19:18899144	NM_000095.3(COMP):c.868-16C>T	NA	not provided	2298	Likely benign
19:18899204	NM_000095.3(COMP):c.867+15A>G	rs1057524202	not specified	2358	Likely benign
19:18899208	NM_000095.3(COMP):c.867+11G>A	rs776412620	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2362	Uncertain significance
19:18899214	NM_000095.3(COMP):c.867+5G>A	rs2055185782	not provided	2368	Uncertain significance
19:18899224	NM_000095.3(COMP):c.862C>A (p.Arg288Ser)	rs762455276	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	2378	Uncertain significance
19:18899235	NM_000095.3(COMP):c.831_851del (p.Asp277_Pro283del)	rs2055186059	not provided	2389	Pathogenic
19:18899236	NM_000095.3(COMP):c.850G>A (p.Glu284Lys)	rs145895692	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	2390	Uncertain significance
19:18899254	NM_000095.3(COMP):c.832G>A (p.Glu278Lys)	NA	not provided	2408	Likely benign
19:18899268	NM_000095.3(COMP):c.818A>T (p.Asp273Val)	rs1601057491	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2422	Likely pathogenic
19:18899269	NM_000095.3(COMP):c.817G>C (p.Asp273His)	NA	not provided	2423	Uncertain significance
19:18899275	NM_000095.3(COMP):c.811G>C (p.Asp271His)	rs1131691835	not provided	2429	Likely pathogenic
19:18899275	NM_000095.3(COMP):c.811G>T (p.Asp271Tyr)	rs1131691835	not provided\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2429	Conflicting interpretations of pathogenicity
19:18899280	NM_000095.3(COMP):c.806A>G (p.Asp269Gly)	NA	not provided	2434	Pathogenic
19:18899280	NM_000095.3(COMP):c.806A>C (p.Asp269Ala)	NA	not provided	2434	Likely pathogenic
19:18899281	NM_000095.3(COMP):c.805G>A (p.Asp269Asn)	NA	not provided	2435	Pathogenic/Likely pathogenic
19:18899287	NM_000095.3(COMP):c.798_799del (p.Cys266fs)	NA	not provided	2441	Uncertain significance
19:18899290	NM_000095.3(COMP):c.796T>C (p.Cys266Arg)	NA	not provided	2444	Uncertain significance
19:18899291	NM_000095.3(COMP):c.795C>A (p.Leu265=)	NA	not provided	2445	Likely benign
19:18899304	NM_000095.3(COMP):c.781_782inv (p.Gly261Pro)	NA	not provided	2458	Uncertain significance
19:18899318	NM_000095.3(COMP):c.768C>A (p.Ala256_Val257=)	NA	Connective tissue disorder	2472	Likely benign
19:18899323	NM_000095.3(COMP):c.763T>C (p.Cys255Arg)	rs1601057570	Multiple epiphyseal dysplasia type 1\|not provided	2477	Conflicting interpretations of pathogenicity
19:18899329	NM_000095.3(COMP):c.763-6C>G	rs886054303	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2483	Uncertain significance
19:18899331	NM_000095.3(COMP):c.763-8T>C	rs374063820	not provided	2485	Conflicting interpretations of pathogenicity
19:18899389	NM_000095.3(COMP):c.762+12C>A	rs199733531	not specified\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	2543	Benign/Likely benign
19:18899389	NM_000095.3(COMP):c.762+12C>T	NA	not provided	2543	Uncertain significance
19:18899396	NM_000095.3(COMP):c.762+5G>C	NA	not provided	2550	Uncertain significance
19:18899400	NM_000095.3(COMP):c.762+1G>A	rs755374221	not provided	2554	Likely pathogenic
19:18899403	NM_000095.3(COMP):c.760G>A (p.Val254Met)	NA	not provided	2557	Uncertain significance
19:18899417	NM_000095.3(COMP):c.746G>T (p.Gly249Val)	NA	not provided	2571	Uncertain significance
19:18899458	NM_000095.3(COMP):c.705C>T (p.Ser235=)	NA	not provided	2612	Uncertain significance
19:18899463	NM_000095.3(COMP):c.700C>T (p.Pro234Ser)	rs557483957	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided\|not specified	2617	Uncertain significance
19:18899479	NM_000095.3(COMP):c.684C>G (p.Phe228Leu)	NA	not provided	2633	Uncertain significance
19:18899505	NM_000095.3(COMP):c.658G>C (p.Gly220Arg)	NA	not provided	2659	Uncertain significance
19:18899520	NM_000095.3(COMP):c.643G>C (p.Gly215Arg)	rs768437153	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	2674	Uncertain significance
19:18899543	NM_000095.3(COMP):c.620G>A (p.Gly207Asp)	rs886054304	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2697	Uncertain significance
19:18899561	NM_000095.3(COMP):c.604-2A>C	NA	not provided	2715	Likely pathogenic
19:18899567	NM_000095.3(COMP):c.604-8C>G	NA	not provided	2721	Benign
19:18899656	NM_000095.3(COMP):c.595A>G (p.Asn199Asp)	NA	Multiple epiphyseal dysplasia type 1	2810	Uncertain significance
19:18899659	NM_000095.3(COMP):c.592A>T (p.Ile198Phe)	NA	not provided	2813	Uncertain significance
19:18899663	NM_000095.3(COMP):c.588G>A (p.Val196=)	rs201165293	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2817	Likely benign
19:18899669	NM_000095.3(COMP):c.582C>G (p.Asn194Lys)	rs1352615165	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	2823	Uncertain significance
19:18899675	NM_000095.3(COMP):c.576C>G (p.Val192=)	NA	not provided	2829	Likely benign
19:18899685	NM_000095.3(COMP):c.566A>G (p.His189Arg)	rs199792797	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	2839	Uncertain significance
19:18899696	NM_000095.3(COMP):c.555G>C (p.Glu185Asp)	NA	not provided	2850	Uncertain significance
19:18899724	NM_000095.3(COMP):c.529-2A>T	NA	See cases	2878	Likely pathogenic
19:18899748	NM_000095.3(COMP):c.529-26G>A	NA	not provided	2902	Likely benign
19:18899893	NM_000095.3(COMP):c.528+76T>C	NA	not provided	3047	Likely benign
19:18899957	NM_000095.3(COMP):c.528+12G>T	NA	not provided	3111	Likely benign
19:18899972	NM_000095.3(COMP):c.525G>C (p.Lys175Asn)	rs1085307693	not provided	3126	Uncertain significance
19:18899986	NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	rs115338183	not specified\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided\|Connective tissue disorder	3140	Benign
19:18899986	NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	rs115338183	not specified\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided\|Connective tissue disorder	3140	Benign
19:18899997	NM_000095.3(COMP):c.500G>A (p.Gly167Glu)	NA	Multiple epiphyseal dysplasia	3151	not provided
19:18899998	NM_000095.3(COMP):c.499G>T (p.Gly167Trp)	NA	not provided	3152	Uncertain significance
19:18900020	NM_000095.3(COMP):c.477C>G (p.Ser159Arg)	NA	not provided	3174	Uncertain significance
19:18900029	NM_000095.3(COMP):c.468G>T (p.Pro156=)	rs202241721	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	3183	Benign/Likely benign
19:18900056	NM_000095.3(COMP):c.441G>C (p.Pro147=)	rs773412062	not provided	3210	Likely benign
19:18900060	NM_000095.3(COMP):c.437G>A (p.Ser146Asn)	rs1311065591	not specified	3214	Likely benign
19:18900085	NM_000095.3(COMP):c.412C>G (p.Pro138Ala)	NA	not provided	3239	Benign
19:18900087	NM_000095.3(COMP):c.410T>C (p.Phe137Ser)	rs757094319	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided\|Connective tissue disorder	3241	Benign/Likely benign
19:18900098	NM_000095.3(COMP):c.399C>A (p.Ala133=)	rs767476445	not provided	3252	Likely benign
19:18900099	NM_000095.3(COMP):c.397_398del (p.Ala133fs)	NA	not provided	3253	Uncertain significance
19:18900101	NM_000095.3(COMP):c.396C>G (p.Asn132Lys)	NA	not provided	3255	Uncertain significance
19:18900147	NM_000095.3(COMP):c.391-41G>A	NA	not provided	3301	Benign
19:18900177	NM_000095.3(COMP):c.391-71G>C	NA	not provided	3331	Likely benign
19:18900235	NM_000095.3(COMP):c.391-129T>A	NA	not provided	3389	Benign
19:18900274	NM_000095.3(COMP):c.391-168C>G	NA	not provided	3428	Benign
19:18900287	NM_000095.3(COMP):c.391-181G>A	NA	not provided	3441	Benign
19:18900360	NM_000095.3(COMP):c.391-254C>T	NA	not provided	3514	Benign
19:18900482	NM_000095.3(COMP):c.390+269C>A	NA	not provided	3636	Likely benign
19:18900733	NM_000095.3(COMP):c.390+18C>G	NA	not provided	3887	Likely benign
19:18900745	NM_000095.3(COMP):c.390+6C>T	rs1601059553	not provided	3899	Uncertain significance
19:18900746	NM_000095.3(COMP):c.390+5G>A	NA	not provided	3900	Uncertain significance
19:18900759	NM_000095.3(COMP):c.382G>A (p.Val128Ile)	NA	not provided\|Connective tissue disorder	3913	Conflicting interpretations of pathogenicity
19:18900760	NM_000095.3(COMP):c.381C>T (p.Asp127=)	rs2055199653	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	3914	Uncertain significance
19:18900764	NM_000095.3(COMP):c.377C>T (p.Thr126Ile)	rs886054305	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	3918	Uncertain significance
19:18900775	NM_000095.3(COMP):c.366C>T (p.Gly122=)	rs886043665	not provided	3929	Uncertain significance
19:18900776	NM_000095.3(COMP):c.361_364dup (p.Gly122fs)	rs1601059597	COMP-related disorders	3930	Likely pathogenic
19:18900781	NM_000095.3(COMP):c.360C>T (p.Gly120=)	rs150820366	not provided\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	3935	Benign/Likely benign
19:18900783	NM_000095.3(COMP):c.358G>T (p.Gly120Cys)	NA	not provided	3937	Uncertain significance
19:18900796	NM_000095.3(COMP):c.345C>G (p.Pro115=)	rs2055200093	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	3950	Uncertain significance
19:18900814	NM_000095.3(COMP):c.327G>T (p.Ala109=)	rs2055200293	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	3968	Uncertain significance
19:18900821	NM_000095.3(COMP):c.320G>A (p.Ser107Asn)	rs1214275425	not provided	3975	Uncertain significance
19:18900827	NM_000095.3(COMP):c.314C>A (p.Thr105Lys)	rs1377001812	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	3981	Uncertain significance
19:18900827	NM_000095.3(COMP):c.314C>T (p.Thr105Met)	NA	Multiple epiphyseal dysplasia type 1	3981	Uncertain significance
19:18900834	NM_000095.3(COMP):c.307A>G (p.Ile103Val)	rs2055200537	not provided	3988	Uncertain significance
19:18900862	NM_000095.3(COMP):c.279C>A (p.Pro93=)	rs139319996	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	4016	Benign
19:18900862	NM_000095.3(COMP):c.279C>G (p.Pro93=)	NA	not provided	4016	Likely benign
19:18900886	NM_000095.3(COMP):c.255G>A (p.Val85=)	NA	not provided	4040	Likely benign
19:18900906	NM_000095.3(COMP):c.235C>A (p.Arg79Ser)	rs768907479	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	4060	Uncertain significance
19:18900913	NM_000095.3(COMP):c.228G>T (p.Gln76His)	NA	not provided	4067	Uncertain significance
19:18900922	NM_000095.3(COMP):c.219G>C (p.Gly73=)	NA	not provided	4076	Likely benign
19:18900928	NM_000095.3(COMP):c.218-5C>G	NA	not provided	4082	Likely benign
19:18900929	NM_000095.3(COMP):c.218-6C>G	rs534407430	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	4083	Benign/Likely benign
19:18900929	NM_000095.3(COMP):c.218-6C>A	NA	not provided	4083	Uncertain significance
19:18900930	NM_000095.3(COMP):c.218-7C>G	rs554031979	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not specified\|not provided	4084	Conflicting interpretations of pathogenicity
19:18900936	NM_000095.3(COMP):c.218-13C>A	rs1225414726	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	4090	Uncertain significance
19:18900937	NM_000095.3(COMP):c.218-14C>T	rs150008764	not specified\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1\|not provided	4091	Benign/Likely benign
19:18900937	NM_000095.3(COMP):c.218-14C>G	rs150008764	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	4091	Uncertain significance
19:18900937	NM_000095.3(COMP):c.218-14C>A	rs150008764	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	4091	Uncertain significance
19:18900938	NM_000095.3(COMP):c.218-15C>A	rs542886784	not provided\|Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	4092	Conflicting interpretations of pathogenicity
19:18901356	NM_000095.3(COMP):c.217+15G>A	rs1439169186	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	4510	Uncertain significance
19:18901367	NM_000095.3(COMP):c.217+4A>G	NA	Connective tissue disorder	4521	Uncertain significance
19:18901391	NM_000095.3(COMP):c.197T>A (p.Val66Glu)	rs2055205599	Carpal tunnel syndrome 2	4545	Pathogenic
19:18901393	NM_000095.3(COMP):c.195G>A (p.Thr65=)	rs529891904	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided	4547	Benign
19:18901421	NM_000095.3(COMP):c.167T>C (p.Val56Ala)	NA	not provided	4575	Uncertain significance
19:18901438	NM_000095.3(COMP):c.166-16C>T	NA	not provided	4592	Likely benign
19:18901618	NM_000095.3(COMP):c.165+41G>C	rs35359254	not specified	4772	Benign
19:18901640	NM_000095.3(COMP):c.165+19G>A	NA	not provided	4794	Likely benign
19:18901650	NM_000095.3(COMP):c.165+9C>A	rs886054306	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|Multiple epiphyseal dysplasia type 1	4804	Uncertain significance
19:18901683	NM_000095.3(COMP):c.141C>T (p.Asp47=)	rs748881562	not provided	4837	Likely benign
19:18901737	NM_000095.3(COMP):c.87C>T (p.Asp29=)	rs759794906	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	4891	Uncertain significance
19:18901898	NM_000095.3(COMP):c.79+102C>T	rs978469885	not provided	5052	Likely benign
19:18901993	NM_000095.3(COMP):c.79+7C>G	rs771546115	not provided	5147	Likely benign
19:18902010	NM_000095.3(COMP):c.69G>A (p.Gln23=)	rs886054307	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	5164	Uncertain significance
19:18902021	NM_000095.3(COMP):c.58G>A (p.Gly20Arg)	NA	not provided	5175	Uncertain significance
19:18902043	NM_000095.3(COMP):c.36C>T (p.Thr12=)	NA	not provided	5197	Likely benign
19:18902068	NM_000095.3(COMP):c.11A>C (p.Asp4Ala)	rs370458957	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome\|not provided\|Connective tissue disorder	5222	Uncertain significance
19:18902078	NM_000095.3(COMP):c.1A>G (p.Met1Val)	NA	Carpal tunnel syndrome 2	5232	Uncertain significance
19:18902087	NM_000095.3(COMP):c.-9G>T	rs186562511	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	5241	Benign/Likely benign
19:18902093	NM_000095.3(COMP):c.-15C>T	rs374273743	Multiple epiphyseal dysplasia type 1\|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	5247	Uncertain significance
19:18902384	Single allele	NA	not provided	5538	Benign
19:18902385	Single allele	NA	not provided	5539	Benign
19:18942582	Single allele	NA	not provided	45736	Benign
19:18942888	NM_002911.4(UPF1):c.-131C>G	NA	not provided	46042	Benign
19:18943156	NM_002911.4(UPF1):c.138G>A (p.Thr46=)	NA	not provided	46310	Benign

Position	Type	Class	Distance	Location with respect to STR
19:18897572-18897879	AluSg	SINE	726	upstream
19:18898701-18899010	AluSc	SINE	1855	upstream

Position	Population	BlockLength (kb)	Distance	Location with respect to STR	No. of SNPs	SNPs in the Haploblock
19:18850345-18850708	AFR	0.364	-46501	downstream	4	rs76807782, rs112219063, rs11666888, rs1166679,
19:18851054-18852847	AFR	1.794	-45792	downstream	2	rs112314271, rs5618240,
19:18853553-18854276	AFR	0.724	-43293	downstream	2	rs2075017, rs7963348,
19:18856251-18857293	AFR	1.043	-40595	downstream	2	rs114552542, rs8008870,
19:18858354-18859757	AFR	1.404	-38492	downstream	5	rs10401995, rs79166964, rs114873329, rs11085244, rs1108524,
19:18859130-18862759	all_pop	3.63	-37716	downstream	7	rs79166964, rs11085244, rs11085245, rs2240887, rs7260000, rs77991031, rs5610022,
19:18859130-18864085	AMR	4.956	-37716	downstream	10	rs79166964, rs12981986, rs11085244, rs11085245, rs78622227, rs2240887, rs7260000, rs77991031, rs56100221, rs5957536,
19:18860919-18862759	AFR	1.841	-35927	downstream	6	rs2240887, rs7260000, rs77991031, rs76633577, rs115625574, rs5610022,
19:18863357-18864085	AFR	0.729	-33489	downstream	2	rs115167686, rs5957536,
19:18864064-18864085	EAS	0.022	-32782	downstream	3	rs182898569, rs59575360, rs14790197,
19:18864085-18864085	all_pop	0.001	-32761	downstream	2	rs59575360, rs14790197,
19:18864085-18864085	SAS	0.001	-32761	downstream	2	rs59575360, rs14790197,
19:18866403-18867561	AFR	1.159	-30443	downstream	3	rs566851740, rs141713946, rs1775740,
19:18866403-18867561	all_pop	1.159	-30443	downstream	3	rs566851740, rs117360667, rs1775740,
19:18866403-18867561	AMR	1.159	-30443	downstream	3	rs566851740, rs117360667, rs1775740,
19:18866403-18898681	EAS	32.279	-30443	downstream	37	rs566851740, rs117360667, rs17757406, rs58108288, rs59313346, rs12052183, rs12610715, rs4808855, rs11878358, rs12975249, rs3746266, rs551445536, rs144285351, rs113227884, rs117744256, rs77946620, rs79049278, rs2240012, rs2240013, rs79387512, rs77275938, rs12611313, rs12609934, rs2240014, rs150249184, rs7257846, rs8104411, rs10406254, rs10038, rs80351546, rs28494505, rs4808155, rs56090467, rs12327738, rs35701632, rs533569509, rs13913613,
19:18866403-18867561	EUR	1.159	-30443	downstream	3	rs566851740, rs117360667, rs1775740,
19:18866938-18894903	SAS	27.966	-29908	downstream	31	rs117360667, rs17757406, rs58108288, rs59313346, rs12052183, rs12610715, rs72997389, rs4808855, rs11878358, rs143223066, rs12975249, rs3746266, rs551445536, rs144285351, rs113227884, rs79049278, rs2240012, rs2240013, rs79387512, rs77275938, rs12611313, rs12609934, rs2240014, rs150249184, rs7257846, rs8104411, rs10406254, rs10038, rs28494505, rs4808155, rs5609046,
19:18868967-18869764	AFR	0.798	-27879	downstream	3	rs58108288, rs59313346, rs7353992,
19:18868967-18869931	all_pop	0.965	-27879	downstream	3	rs58108288, rs59313346, rs1205218,
19:18868967-18868974	AMR	0.008	-27879	downstream	2	rs58108288, rs5931334,
19:18868967-18868987	EUR	0.021	-27879	downstream	3	rs58108288, rs59313346, rs11348087,
19:18869931-18875021	AFR	5.091	-26915	downstream	6	rs12052183, rs61208526, rs12610715, rs4808855, rs11878358, rs7555653,
19:18869931-18895218	AMR	25.288	-26915	downstream	33	rs12052183, rs12610715, rs72997389, rs74736618, rs4808855, rs11878358, rs12975249, rs3746266, rs551445536, rs144285351, rs113227884, rs77946620, rs74787200, rs79049278, rs55916174, rs2240012, rs2240013, rs79387512, rs77275938, rs12611313, rs12609934, rs2240014, rs150249184, rs7257846, rs78830644, rs8104411, rs10406254, rs10038, rs80351546, rs28494505, rs4808155, rs56090467, rs1232773,
19:18869931-18894903	EUR	24.973	-26915	downstream	37	rs12052183, rs62137144, rs12610715, rs72997389, rs74736618, rs4808855, rs11878358, rs12975249, rs72997391, rs79054960, rs36070283, rs3746266, rs551445536, rs144285351, rs113227884, rs74787200, rs79049278, rs55916174, rs12980851, rs2240012, rs2240013, rs79387512, rs77275938, rs12611313, rs56033554, rs12609934, rs2240014, rs150249184, rs7257846, rs78830644, rs8104411, rs10406254, rs10038, rs76936388, rs28494505, rs4808155, rs5609046,
19:18872917-18893811	all_pop	20.895	-23929	downstream	37	rs12610715, rs4808855, rs11878358, rs12975249, rs114681099, rs3746266, rs11443048, rs551445536, rs199830278, rs144285351, rs58769151, rs113227884, rs8106846, rs116808450, rs113478991, rs79049278, rs55916174, rs79319651, rs2240012, rs2240013, rs79387512, rs79733585, rs77275938, rs12611313, rs12609934, rs2240014, rs150249184, rs7257846, rs8104411, rs111481472, rs10406254, rs115882097, rs10038, rs555027167, rs77185131, rs61752496, rs2849450,
19:18875568-18876770	AFR	1.203	-21278	downstream	2	rs11879043, rs1144304,
19:18877079-18896045	AFR	18.967	-19767	downstream	40	rs551445536, rs199830278, rs144285351, rs58769151, rs113227884, rs8106846, rs116808450, rs113478991, rs79049278, rs79319651, rs2240012, rs2240013, rs79387512, rs73523203, rs114653297, rs79733585, rs77275938, rs74948687, rs60784646, rs12611313, rs12609934, rs2240014, rs150249184, rs7257846, rs8104411, rs111481472, rs78267214, rs60953222, rs115852974, rs10406254, rs115882097, rs10038, rs555027167, rs77185131, rs61752496, rs28494505, rs4808155, rs56090467, rs12327738, rs11467002,
19:18894490-18895370	all_pop	0.881	-2356	downstream	4	rs4808155, rs56090467, rs12327738, rs5578033,
19:18895218-18897572	EUR	2.355	-1628	downstream	5	rs12327738, rs55780333, rs34467947, rs35701632, rs53356950,
19:18895218-18896087	SAS	0.87	-1628	downstream	2	rs12327738, rs3570163,
19:18895370-18896087	AMR	0.718	-1476	downstream	2	rs55780333, rs3570163,
19:18898681-18898727	AFR	0.047	1835	upstream	2	rs139136139, rs55966121,
19:18898681-18898727	all_pop	0.047	1835	upstream	2	rs139136139, rs55966121,
19:18898681-18898727	AMR	0.047	1835	upstream	2	rs139136139, rs55966121,
19:18898681-18898727	EUR	0.047	1835	upstream	2	rs139136139, rs55966121,
19:18898681-18898727	SAS	0.047	1835	upstream	2	rs139136139, rs55966121,
19:18898786-18899986	AFR	1.201	1940	upstream	2	rs148847186, rs11533818,
19:18899893-18904169	EAS	4.277	3047	upstream	8	rs74798576, rs3787050, rs1989888, rs6511002, rs730079, rs75053449, rs739638, rs7491575,
19:18900147-18901618	AFR	1.472	3301	upstream	5	rs76894490, rs73523211, rs73523213, rs111940649, rs3535925,
19:18900360-18902473	all_pop	2.114	3514	upstream	3	rs3787050, rs35359254, rs198988,
19:18900360-18903495	EUR	3.136	3514	upstream	5	rs3787050, rs35359254, rs1989888, rs6511002, rs73007,
19:18900360-18903495	SAS	3.136	3514	upstream	4	rs3787050, rs1989888, rs6511002, rs73007,
19:18902473-18903495	AMR	1.023	5627	upstream	3	rs1989888, rs6511002, rs73007,
19:18902592-18903495	all_pop	0.904	5746	upstream	2	rs6511002, rs73007,
19:18903495-18903808	AFR	0.314	6649	upstream	2	rs730079, rs73963,
19:18903808-18904005	all_pop	0.198	6962	upstream	2	rs739638, rs7749113,
19:18905193-18906608	AFR	1.416	8347	upstream	8	rs10403990, rs9304956, rs8105333, rs73523234, rs73523236, rs73523237, rs7255805, rs7577843,
19:18905193-18906534	all_pop	1.342	8347	upstream	4	rs10403990, rs9304956, rs8105333, rs725580,
19:18905193-18906534	AMR	1.342	8347	upstream	4	rs10403990, rs9304956, rs8105333, rs725580,
19:18905193-18907926	EAS	2.734	8347	upstream	5	rs10403990, rs117862028, rs7255805, rs10412558, rs1041429,
19:18905193-18908905	SAS	3.713	8347	upstream	11	rs10403990, rs9304956, rs8105333, rs7255805, rs4808156, rs10412558, rs10414298, rs74346119, rs59612753, rs7257195, rs725636,
19:18905266-18908905	EUR	3.64	8420	upstream	10	rs9304956, rs8105333, rs7255805, rs4808156, rs10412558, rs10414298, rs74346119, rs59612753, rs7257195, rs725636,
19:18907082-18907926	AFR	0.845	10236	upstream	7	rs73523239, rs113295495, rs530002566, rs73523241, rs10412558, rs10414281, rs1041429,
19:18907879-18907926	AMR	0.048	11033	upstream	2	rs10412558, rs1041429,
19:18907926-18908436	all_pop	0.511	11080	upstream	2	rs10414298, rs7434611,
19:18908381-18908598	AFR	0.218	11535	upstream	3	rs10420291, rs10418989, rs725593,
19:18908436-18908626	AMR	0.191	11590	upstream	2	rs74346119, rs5961275,
19:18908626-18908905	EAS	0.28	11780	upstream	3	rs59612753, rs7257195, rs725636,
19:18908629-18908786	AFR	0.158	11783	upstream	2	rs201960054, rs725719,
19:18908786-18908905	all_pop	0.12	11940	upstream	2	rs7257195, rs725636,
19:18908786-18908905	AMR	0.12	11940	upstream	2	rs7257195, rs725636,
19:18910681-18912588	AFR	1.908	13835	upstream	8	rs55801653, rs76784494, rs559963157, rs66495698, rs10416602, rs57599805, rs28555441, rs11274994,
19:18910681-18912588	all_pop	1.908	13835	upstream	7	rs55801653, rs66495698, rs66935355, rs10416602, rs57599805, rs28555441, rs11274994,
19:18910681-18912264	AMR	1.584	13835	upstream	5	rs55801653, rs66495698, rs66935355, rs57599805, rs2855544,
19:18910681-18912264	EAS	1.584	13835	upstream	5	rs55801653, rs66495698, rs66935355, rs57599805, rs2855544,
19:18910681-18912264	EUR	1.584	13835	upstream	5	rs55801653, rs66495698, rs66935355, rs57599805, rs2855544,
19:18910681-18912264	SAS	1.584	13835	upstream	6	rs55801653, rs117427429, rs66495698, rs66935355, rs57599805, rs2855544,
19:18912946-18915657	AFR	2.712	16100	upstream	10	rs13345019, rs13344980, rs145950758, rs113325490, rs7250885, rs7251468, rs12462071, rs78541039, rs4808157, rs1108524,
19:18914325-18916295	all_pop	1.971	17479	upstream	11	rs7250885, rs143642145, rs7251468, rs12462048, rs12462071, rs66639850, rs4808157, rs11085246, rs4808158, rs2313048, rs651100,
19:18914325-18916295	AMR	1.971	17479	upstream	10	rs7250885, rs143642145, rs7251468, rs12462048, rs12462071, rs66639850, rs4808157, rs4808158, rs2313048, rs651100,
19:18914325-18916863	EAS	2.539	17479	upstream	15	rs7250885, rs143642145, rs7251468, rs12462048, rs12462071, rs66639850, rs4808157, rs4808158, rs2313048, rs6511003, rs78298312, rs180862065, rs140933077, rs183675660, rs14477869,
19:18914325-18916295	SAS	1.971	17479	upstream	10	rs7250885, rs143642145, rs7251468, rs12462048, rs12462071, rs66639850, rs4808157, rs4808158, rs2313048, rs651100,
19:18914352-18916728	EUR	2.377	17506	upstream	10	rs143642145, rs7251468, rs12462048, rs12462071, rs66639850, rs4808157, rs4808158, rs2313048, rs6511003, rs7829831,
19:18915813-18916295	AFR	0.483	18967	upstream	2	rs4808158, rs651100,
19:18916728-18916834	AMR	0.107	19882	upstream	2	rs78298312, rs18086206,
19:18916728-18916834	SAS	0.107	19882	upstream	2	rs78298312, rs18086206,
19:18916840-18916841	EUR	0.002	19994	upstream	2	rs140933077, rs18367566,
19:18916841-18916863	all_pop	0.023	19995	upstream	2	rs183675660, rs14477869,
19:18916863-18916914	AMR	0.052	20017	upstream	2	rs144778694, rs11352300,
19:18916886-18926836	EAS	9.951	20040	upstream	37	rs147963282, rs113523005, rs149174957, rs10422232, rs12460659, rs12460700, rs6511005, rs8100054, rs114672227, rs7250640, rs10410509, rs6511006, rs10418110, rs11668361, rs11672239, rs201520430, rs572377457, rs534823257, rs201206545, rs60170304, rs75069709, rs8102370, rs8101846, rs17750957, rs74205830, rs10710067, rs12985993, rs111502898, rs375161251, rs11296844, rs144177890, rs541750147, rs561565146, rs529756289, rs8103912, rs55995815, rs480815,
19:18916914-18920244	EUR	3.331	20068	upstream	11	rs113523005, rs149174957, rs10422232, rs12460659, rs12460700, rs6511005, rs8100054, rs114672227, rs7250640, rs10410509, rs651100,
19:18917352-18918519	all_pop	1.168	20506	upstream	7	rs149174957, rs10422232, rs12460659, rs12460700, rs6511005, rs7245487, rs810005,
19:18917352-18919170	AMR	1.819	20506	upstream	7	rs149174957, rs10422232, rs12460659, rs12460700, rs6511005, rs8100054, rs11467222,
19:18917352-18917759	SAS	0.408	20506	upstream	3	rs149174957, rs10422232, rs1246065,
19:18917662-18918519	AFR	0.858	20816	upstream	5	rs10422232, rs12460700, rs6511005, rs7245487, rs810005,
19:18917771-18919170	SAS	1.4	20925	upstream	4	rs12460700, rs6511005, rs8100054, rs11467222,
19:18919021-18919170	AFR	0.15	22175	upstream	2	rs77547555, rs11467222,
19:18919311-18920244	SAS	0.934	22465	upstream	3	rs7250640, rs10410509, rs651100,
19:18919944-18922202	AFR	2.259	23098	upstream	15	rs16995751, rs10410509, rs10418110, rs77889527, rs557468182, rs11668361, rs11672239, rs113913538, rs4808858, rs113960434, rs112134182, rs60170304, rs111870399, rs111300169, rs810237,
19:18920244-18920952	all_pop	0.709	23398	upstream	4	rs6511006, rs10418110, rs77889527, rs55746818,
19:18920244-18922202	AMR	1.959	23398	upstream	11	rs6511006, rs10418110, rs11668361, rs11672239, rs201520430, rs572377457, rs534823257, rs201206545, rs60170304, rs75069709, rs810237,
19:18920388-18925376	SAS	4.989	23542	upstream	16	rs372521583, rs10418110, rs11668361, rs11672239, rs201520430, rs572377457, rs534823257, rs201206545, rs60170304, rs75069709, rs8102370, rs8101846, rs17750957, rs74205830, rs10710067, rs1298599,
19:18920954-18925429	EUR	4.476	24108	upstream	15	rs11668361, rs11672239, rs201520430, rs572377457, rs534823257, rs201206545, rs60170304, rs75069709, rs8102370, rs8101846, rs17750957, rs74205830, rs10710067, rs12985993, rs11150289,
19:18921020-18925376	all_pop	4.357	24174	upstream	15	rs11672239, rs201520430, rs572377457, rs534823257, rs201206545, rs113960434, rs60170304, rs75069709, rs8102370, rs8101846, rs144402538, rs17750957, rs74205830, rs10710067, rs1298599,
19:18922606-18925429	AFR	2.824	25760	upstream	10	rs13343636, rs144402538, rs16994655, rs17750957, rs142259210, rs111360809, rs10710067, rs76963742, rs116236401, rs11150289,
19:18923291-18927157	AMR	3.867	26445	upstream	16	rs17750957, rs74205830, rs10710067, rs12985993, rs111502898, rs375161251, rs11296844, rs144177890, rs188923926, rs541750147, rs561565146, rs529756289, rs8103912, rs55995815, rs4808159, rs480816,
19:18925429-18925567	SAS	0.139	28583	upstream	2	rs111502898, rs37516125,
19:18925936-18925944	AFR	0.009	29090	upstream	2	rs11296844, rs53649787,
19:18925994-18926836	AFR	0.843	29148	upstream	7	rs28709923, rs112511325, rs541750147, rs561565146, rs529756289, rs8103912, rs480815,
19:18925994-18928480	all_pop	2.487	29148	upstream	10	rs28709923, rs144177890, rs541750147, rs561565146, rs529756289, rs8103912, rs55995815, rs4808159, rs4808160, rs810465,
19:18926085-18928635	EUR	2.551	29239	upstream	10	rs144177890, rs541750147, rs561565146, rs529756289, rs8103912, rs55995815, rs4808159, rs4808160, rs8104653, rs810508,
19:18926085-18928480	SAS	2.396	29239	upstream	9	rs144177890, rs541750147, rs561565146, rs529756289, rs8103912, rs55995815, rs4808159, rs4808160, rs810465,
19:18927157-18928366	AFR	1.21	30311	upstream	2	rs4808160, rs1041000,
19:18929268-18932364	AMR	3.097	32422	upstream	2	rs543643386, rs13993774,
19:18929561-18937777	AFR	8.217	32715	upstream	25	rs111884641, rs112616691, rs112628092, rs73526904, rs60825071, rs112901214, rs55807954, rs61623198, rs56215471, rs55732571, rs56377633, rs112442797, rs116324755, rs10402906, rs540324025, rs12973472, rs10409546, rs10410079, rs200648710, rs10412092, rs59992714, rs111363612, rs57036727, rs142384377, rs11299615,
19:18929779-18936046	all_pop	6.268	32933	upstream	18	rs112628092, rs60825071, rs112901214, rs55807954, rs61623198, rs56215471, rs55732571, rs8107418, rs8110839, rs112442797, rs10402906, rs540324025, rs12973472, rs10409546, rs10409195, rs10410079, rs10412092, rs5999271,
19:18930410-18936102	SAS	5.693	33564	upstream	7	rs140797918, rs139937745, rs8107418, rs8110839, rs12973472, rs10409195, rs5703672,
19:18930758-18936102	EUR	5.345	33912	upstream	7	rs80125716, rs139937745, rs8107418, rs8110839, rs12973472, rs10409195, rs5703672,
19:18932375-18936102	EAS	3.728	35529	upstream	6	rs142825067, rs8110839, rs12973472, rs77746532, rs10409195, rs5703672,
19:18932960-18937888	AMR	4.929	36114	upstream	7	rs8107418, rs8110839, rs12973472, rs10409195, rs57036727, rs139252711, rs7845785,
19:18936102-18937777	all_pop	1.676	39256	upstream	2	rs57036727, rs11299615,
19:18938320-18940110	AFR	1.791	41474	upstream	6	rs56368502, rs146561421, rs138776676, rs4808859, rs74505744, rs11752171,
19:18938320-18940110	all_pop	1.791	41474	upstream	5	rs56368502, rs138776676, rs4808859, rs74505744, rs11752171,
19:18940322-18953670	all_pop	13.349	43476	upstream	17	rs369226801, rs61043501, rs112525753, rs12984055, rs55824320, rs4808161, rs2239371, rs11666949, rs73526907, rs11670952, rs73526909, rs111981791, rs57870078, rs2238653, rs10420445, rs3787048, rs378704,
19:18940322-18971322	AMR	31.001	43476	upstream	27	rs369226801, rs61043501, rs12984055, rs4808161, rs2239371, rs11666949, rs73526907, rs11670952, rs73526909, rs57870078, rs2238653, rs10420445, rs3787048, rs3787047, rs528801291, rs59045002, rs1024445, rs1024446, rs2238654, rs2238655, rs2238656, rs757113, rs886298, rs7250661, rs757114, rs4808861, rs75711,
19:18940322-18973438	EUR	33.117	43476	upstream	32	rs369226801, rs61043501, rs12984055, rs4808161, rs2239371, rs11666949, rs73526907, rs11670952, rs73526909, rs57870078, rs2238653, rs10420445, rs3787048, rs3787047, rs528801291, rs59045002, rs1024445, rs1024446, rs2238654, rs2238655, rs2238656, rs757113, rs886298, rs7250661, rs62138061, rs757114, rs4808861, rs757115, rs10405364, rs7251329, rs7252523, rs200569,
19:18940322-18953670	SAS	13.349	43476	upstream	12	rs369226801, rs61043501, rs12984055, rs4808161, rs2239371, rs11666949, rs73526907, rs73526909, rs57870078, rs2238653, rs3787048, rs378704,
19:18940331-18985873	EAS	45.543	43485	upstream	61	rs61043501, rs12984055, rs2238652, rs4808161, rs80065570, rs73923167, rs2239371, rs11666949, rs73526907, rs11670952, rs57030846, rs73526909, rs73923168, rs57870078, rs2238653, rs10420445, rs3787048, rs3787047, rs150293216, rs528801291, rs59045002, rs1024445, rs1024446, rs3787045, rs2238654, rs2238655, rs2238656, rs757113, rs886298, rs117634841, rs200509487, rs79107411, rs7250661, rs11667922, rs757114, rs4808861, rs11669119, rs757115, rs73923171, rs10405364, rs7252523, rs2005695, rs113473472, rs7257086, rs78508167, rs2238657, rs2238658, rs73923173, rs10410987, rs11673194, rs571387097, rs4808863, rs572877061, rs75088028, rs374639707, rs371153257, rs3746265, rs538671232, rs7250622, rs4808866, rs7696977,
19:18940546-18967721	AFR	27.176	43700	upstream	25	rs112525753, rs55824320, rs2239371, rs148469032, rs73526906, rs73526907, rs11670952, rs79317400, rs73526909, rs111981791, rs57870078, rs77733047, rs2238653, rs10420445, rs3787048, rs3787047, rs528801291, rs59045002, rs1024446, rs16995752, rs2238654, rs113566862, rs2238655, rs757113, rs3467772,

Conservation score was not calculated