STRIDE-DB

Repeat Length	AFR	AMR	EUR	EAS	SAS	Repeat
8.3	579	97	206	227	263	GCGGCGGCGGCGGCGGCGGCGGCGG
3.3	0	0	0	0	4	GCGGCGGCGG
4.3	1	0	0	0	0	GCGGCGGCGGCGG
5.3	0	0	0	0	1	GCGGCGGCGGCGGCGG
6.3	6	1	3	2	2	GCGGCGGCGGCGGCGGCGG
7.0	0	2	0	0	3	GCGGCGGCGGCGGCGGCGGCG
7.3	31	4	9	3	11	GCGGCGGCGGCGGCGGCGGCGG
8.0	2	0	0	1	1	GCGGCGGCGGCGGCGGCGGCGGCG
9.3	146	94	217	123	414	GCGGCGGCGGCGGCGGCGGCGGCGGCGG
9.7	0	0	0	0	2	GCGGCGGCGGCGGCGGCGGCGGCGGCGGC
10.3	44	53	43	8	50	GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
10.7	0	0	0	1	0	GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
11.3	10	5	1	2	6	GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
12.3	0	0	10	2	0	GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
13.3	1	0	3	0	1	GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
14.3	0	0	0	1	0	GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG

Position	Disease/Trait	P-value	SNPs	Location with respect to STR	distance	Study
11:66464561	Childhood gender nonconformity,	1.0E-6	rs114901285	downstream	-47731	Genome-Wide Linkage and Association Study of Childhood Gender Nonconformity in Males.
11:66477865	Breast cancer,	8.0E-6	rs55908905	downstream	-34427	Association analysis identifies 65 new breast cancer risk loci.
11:66483265	Bipolar disorder (MTAG),	3.0E-8	rs12805133	downstream	-29027	Multi-trait analysis for genome-wide association study of five psychiatric disorders.
11:66483265	Bipolar disorder (MTAG),	5.0E-9	rs12805133	downstream	-29027	Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.
11:66483265	Hip circumference adjusted for BMI,	1.0E-9	rs12805133	downstream	-29027	GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.
11:66486143	Vertex-wise cortical thickness,	4.0E-8	rs551708	downstream	-26149	The genetic architecture of human cortical folding.
11:66486143	Monocyte count,	4.0E-9	rs551708	downstream	-26149	A cross-population atlas of genetic associations for 220 human phenotypes.
11:66501624	Osteoarthritis (hip),	2.0E-8	rs34419890	downstream	-10668	Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.
11:66501624	Waist circumference adjusted for body mass index,	4.0E-49	rs34419890	downstream	-10668	Shared Genetic and Experimental Links between Obesity-Related Traits and Asthma Subtypes in UK Biobank.
11:66501624	High density lipoprotein cholesterol levels,	3.0E-9	rs34419890	downstream	-10668	Genetics of 35 blood and urine biomarkers in the UK Biobank.
11:66501624	Insulin-like growth factor 1 levels,	1.0E-10	rs34419890	downstream	-10668	Genetics of 35 blood and urine biomarkers in the UK Biobank.
11:66501624	Serum phosphate levels,	4.0E-9	rs34419890	downstream	-10668	Genetics of 35 blood and urine biomarkers in the UK Biobank.
11:66501624	Total cholesterol levels,	5.0E-8	rs34419890	downstream	-10668	A cross-population atlas of genetic associations for 220 human phenotypes.
11:66501624	Hip circumference adjusted for BMI,	7.0E-27	rs34419890	downstream	-10668	GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.
11:66518889	Urate levels,	2.0E-120	rs149670286	upstream	6597	Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
11:66518889	Serum uric acid levels,	1.0E-14	rs149670286	upstream	6597	Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals.
11:66529963	Mean corpuscular hemoglobin,	3.0E-9	rs147974484	upstream	17671	Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
11:66551002	Bipolar disorder,	1.0E-7	rs10896135	upstream	38710	A genome-wide association study identifies two novel susceptibility loci and trans population polygenicity associated with bipolar disorder.
11:66551002	Bipolar disorder,	2.0E-7	rs10896135	upstream	38710	Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
11:66560982	Moderate to vigorous physical activity levels,	6.0E-10	rs4576826	upstream	48690	Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE.

Flanking region : 5 kb 10 kb 50 kb

Position	HGVS	dbSNP id	Phenotype List	Distance	Clinvar Significance
11:66463743	NM_006946.4(SPTBN2):c.4278+5G>C	NA	not provided	-48549	Uncertain significance
11:66463793	NM_006946.4(SPTBN2):c.4233C>T (p.Tyr1411=)	NA	not provided	-48499	Likely benign
11:66463846	NM_006946.4(SPTBN2):c.4180G>A (p.Ala1394Thr)	NA	not provided	-48446	Uncertain significance
11:66463889	NM_006946.4(SPTBN2):c.4137C>G (p.Leu1379=)	rs761964666	not provided	-48403	Likely benign
11:66463906	NM_006946.4(SPTBN2):c.4120G>A (p.Ala1374Thr)	rs199675740	Autosomal dominant cerebellar ataxia\|not provided	-48386	Conflicting interpretations of pathogenicity
11:66463928	NM_006946.4(SPTBN2):c.4098C>T (p.Asp1366=)	rs368795514	not provided	-48364	Benign
11:66463961	NM_006946.4(SPTBN2):c.4065G>A (p.Ser1355=)	NA	not provided	-48331	Likely benign
11:66463980	NM_006946.4(SPTBN2):c.4046A>C (p.Glu1349Ala)	NA	not provided	-48312	Likely benign
11:66464004	NM_006946.4(SPTBN2):c.4022G>A (p.Arg1341Gln)	rs149992317	not specified	-48288	Likely benign
11:66464023	NM_006946.4(SPTBN2):c.4015-12C>T	NA	not provided	-48269	Likely benign
11:66465975	NM_006946.4(SPTBN2):c.4014+135T>C	NA	not provided	-46317	Likely benign
11:66466145	NM_006946.4(SPTBN2):c.3979G>A (p.Ala1327Thr)	NA	not provided	-46147	Uncertain significance
11:66466152	NM_006946.4(SPTBN2):c.3972C>T (p.Ala1324=)	rs886048550	Autosomal dominant cerebellar ataxia	-46140	Uncertain significance
11:66466161	NM_006946.4(SPTBN2):c.3963A>G (p.Ala1321=)	rs142480868	not provided	-46131	Benign/Likely benign
11:66466174	NM_006946.4(SPTBN2):c.3939_3950del (p.His1313_Trp1316del)	rs1590931758	not provided	-46118	Uncertain significance
11:66466186	NM_006946.4(SPTBN2):c.3938A>C (p.His1313Pro)	rs748517894	not provided	-46106	Uncertain significance
11:66466195	NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His)	rs201852582	Spinocerebellar ataxia type 5;Autosomal recessive spinocerebellar ataxia 14\|not provided	-46097	Uncertain significance
11:66466239	NM_006946.4(SPTBN2):c.3885C>T (p.Asp1295=)	rs146526805	not provided\|not specified	-46053	Benign
11:66466241	NM_006946.4(SPTBN2):c.3883G>A (p.Asp1295Asn)	rs1449778004	not provided	-46051	Uncertain significance
11:66466251	NM_006946.4(SPTBN2):c.3873G>A (p.Lys1291=)	rs759645170	not provided	-46041	Benign
11:66466255	NM_006946.4(SPTBN2):c.3869T>G (p.Leu1290Arg)	rs1085307915	not provided	-46037	Likely pathogenic
11:66466460	NM_006946.4(SPTBN2):c.3867+3G>T	rs753473374	Spinocerebellar ataxia type 5	-45832	Uncertain significance
11:66466480	NM_006946.4(SPTBN2):c.3850C>T (p.Leu1284=)	NA	not provided	-45812	Likely benign
11:66466486	NM_006946.4(SPTBN2):c.3844C>G (p.His1282Asp)	rs778241858	not specified	-45806	Uncertain significance
11:66466498	NM_006946.4(SPTBN2):c.3832C>T (p.Arg1278Trp)	NA	not provided	-45794	Uncertain significance
11:66466500	NM_006946.4(SPTBN2):c.3830A>G (p.Asn1277Ser)	rs746049954	not provided	-45792	Uncertain significance
11:66466506	NM_006946.4(SPTBN2):c.3824G>A (p.Arg1275Gln)	rs534938954	not provided	-45786	Uncertain significance
11:66466507	NM_006946.4(SPTBN2):c.3823C>T (p.Arg1275Trp)	rs148878156	Autosomal dominant cerebellar ataxia	-45785	Uncertain significance
11:66466526	NM_006946.4(SPTBN2):c.3804G>A (p.Gln1268=)	rs143537378	not specified\|not provided	-45766	Benign/Likely benign
11:66466529	NM_006946.4(SPTBN2):c.3801G>A (p.Ala1267=)	rs776179938	not provided	-45763	Likely benign
11:66466529	NM_006946.4(SPTBN2):c.3801G>C (p.Ala1267=)	rs776179938	not provided	-45763	Likely benign
11:66466530	NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val)	rs148065361	not provided\|Spinocerebellar ataxia type 5;Autosomal recessive spinocerebellar ataxia 14	-45762	Conflicting interpretations of pathogenicity
11:66466535	NM_006946.4(SPTBN2):c.3795C>T (p.Asp1265=)	rs141779130	Autosomal dominant cerebellar ataxia	-45757	Uncertain significance
11:66466538	NM_006946.4(SPTBN2):c.3791_3792del (p.Gln1264fs)	rs786205617	not provided	-45754	Likely pathogenic
11:66466538	NM_006946.4(SPTBN2):c.3791_3792del (p.Gln1264fs)	rs786205617	not provided	-45754	Likely pathogenic
11:66466815	NM_006946.4(SPTBN2):c.3776+62C>T	NA	not provided	-45477	Benign
11:66466888	NM_006946.4(SPTBN2):c.3765C>T (p.Ser1255=)	rs886048551	Autosomal dominant cerebellar ataxia	-45404	Uncertain significance
11:66466904	NM_006946.4(SPTBN2):c.3749G>A (p.Arg1250Gln)	rs145948524	not provided	-45388	Conflicting interpretations of pathogenicity
11:66466905	NM_006946.4(SPTBN2):c.3748C>T (p.Arg1250Trp)	rs766723349	not provided	-45387	Uncertain significance
11:66466914	NM_006946.4(SPTBN2):c.3739G>A (p.Asp1247Asn)	NA	not provided	-45378	Uncertain significance
11:66466915	NM_006946.4(SPTBN2):c.3738C>T (p.Ala1246=)	rs779091056	not provided	-45377	Benign/Likely benign
11:66466917	NM_006946.4(SPTBN2):c.3736G>A (p.Ala1246Thr)	NA	not provided	-45375	Uncertain significance
11:66466922	NM_006946.4(SPTBN2):c.3731T>G (p.Ile1244Ser)	rs1565126661	not provided	-45370	Uncertain significance
11:66466931	NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)	rs141683210	not specified\|not provided\|Spinocerebellar ataxia type 5;Autosomal recessive spinocerebellar ataxia 14	-45361	Conflicting interpretations of pathogenicity
11:66466935	NM_006946.4(SPTBN2):c.3718T>A (p.Ser1240Thr)	rs376594612	not provided	-45357	Uncertain significance
11:66466936	NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=)	rs369017203	not provided	-45356	Conflicting interpretations of pathogenicity
11:66466946	NM_006946.4(SPTBN2):c.3707G>A (p.Arg1236His)	rs372553453	not provided	-45346	Likely benign
11:66466960	NM_006946.4(SPTBN2):c.3693C>T (p.Leu1231=)	rs768135548	not specified\|not provided	-45332	Benign/Likely benign
11:66466967	NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg)	rs114788199	Autosomal dominant cerebellar ataxia\|not provided\|not specified	-45325	Benign/Likely benign
11:66466975	NM_006946.4(SPTBN2):c.3678A>G (p.Glu1226=)	NA	not provided	-45317	Likely benign
11:66466982	NM_006946.4(SPTBN2):c.3671A>G (p.Asn1224Ser)	rs139077453	not provided	-45310	Conflicting interpretations of pathogenicity
11:66466986	NM_006946.4(SPTBN2):c.3667G>A (p.Ala1223Thr)	rs765368981	not provided	-45306	Uncertain significance
11:66467027	NM_006946.4(SPTBN2):c.3626C>T (p.Ala1209Val)	NA	not provided	-45265	Uncertain significance
11:66467046	NM_006946.4(SPTBN2):c.3607A>G (p.Thr1203Ala)	NA	not provided	-45246	Uncertain significance
11:66467769	NM_006946.4(SPTBN2):c.3573+228A>T	NA	not provided	-44523	Benign
11:66468011	NM_006946.4(SPTBN2):c.3559G>A (p.Val1187Met)	NA	not provided	-44281	Uncertain significance
11:66468035	NM_006946.4(SPTBN2):c.3535C>T (p.Arg1179Trp)	rs764276089	not specified	-44257	Uncertain significance
11:66468042	NM_006946.4(SPTBN2):c.3528A>T (p.Gly1176=)	NA	not provided	-44250	Likely benign
11:66468053	NM_006946.4(SPTBN2):c.3517G>A (p.Gly1173Ser)	NA	not provided	-44239	Uncertain significance
11:66468054	NM_006946.4(SPTBN2):c.3516C>T (p.His1172=)	rs149829140	not specified\|not provided	-44238	Benign
11:66468102	NM_006946.4(SPTBN2):c.3468G>A (p.Glu1156=)	rs749647878	not provided	-44190	Likely benign
11:66468117	NM_006946.4(SPTBN2):c.3453A>G (p.Gly1151=)	rs768932281	Autosomal dominant cerebellar ataxia	-44175	Uncertain significance
11:66468117	NM_006946.4(SPTBN2):c.3453A>T (p.Gly1151=)	NA	not provided	-44175	Uncertain significance
11:66468122	NM_006946.4(SPTBN2):c.3448C>T (p.Leu1150=)	rs374741931	not provided	-44170	Likely benign
11:66468139	NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln)	rs558572111	Autosomal recessive cerebellar ataxia\|not provided	-44153	Conflicting interpretations of pathogenicity
11:66468140	NM_006946.4(SPTBN2):c.3430C>T (p.Arg1144Ter)	rs1402216317	Autosomal recessive cerebellar ataxia	-44152	Uncertain significance
11:66468141	NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=)	rs35370566	Autosomal dominant cerebellar ataxia\|not provided\|not specified	-44151	Benign/Likely benign
11:66468147	NM_006946.4(SPTBN2):c.3423C>G (p.Leu1141=)	NA	not provided	-44145	Uncertain significance
11:66468166	NM_006946.4(SPTBN2):c.3404A>C (p.Gln1135Pro)	NA	not provided	-44126	Uncertain significance
11:66468173	GRCh37/hg19 11q13.2(chr11:66468173-66475184)x1	NA	not provided	-44119	Benign
11:66468173	NM_006946.4(SPTBN2):c.3397C>T (p.Arg1133Trp)	NA	not provided	-44119	Likely benign
11:66468196	NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln)	rs375601930	not provided	-44096	Uncertain significance
11:66468215	NM_006946.4(SPTBN2):c.3355A>C (p.Ser1119Arg)	rs760806416	not provided	-44077	Likely benign
11:66468223	NM_006946.4(SPTBN2):c.3347G>A (p.Arg1116Gln)	rs372569008	not provided	-44069	Likely benign
11:66468238	NM_006946.4(SPTBN2):c.3332G>C (p.Arg1111Pro)	rs763945497	not provided	-44054	Uncertain significance
11:66468252	NM_006946.4(SPTBN2):c.3318A>G (p.Gln1106=)	NA	not provided	-44040	Benign
11:66468272	NM_006946.4(SPTBN2):c.3298G>T (p.Ala1100Ser)	NA	not provided	-44020	Uncertain significance
11:66468288	NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=)	rs114241603	not specified\|Autosomal dominant cerebellar ataxia\|not provided	-44004	Benign/Likely benign
11:66468288	NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=)	rs114241603	not specified\|Autosomal dominant cerebellar ataxia\|not provided	-44004	Benign/Likely benign
11:66468289	NM_006946.4(SPTBN2):c.3281C>T (p.Pro1094Leu)	rs748499520	not provided	-44003	Uncertain significance
11:66468322	NM_006946.4(SPTBN2):c.3248G>A (p.Arg1083His)	rs367949397	not provided	-43970	Uncertain significance
11:66468334	NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val)	rs763021473	Spinocerebellar ataxia type 5	-43958	Uncertain significance
11:66468335	NM_006946.4(SPTBN2):c.3235G>C (p.Ala1079Pro)	NA	not provided	-43957	Uncertain significance
11:66468376	NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln)	rs753324919	Autosomal dominant cerebellar ataxia\|not provided	-43916	Conflicting interpretations of pathogenicity
11:66468396	NM_006946.4(SPTBN2):c.3174A>G (p.Glu1058=)	rs1590936888	not provided	-43896	Likely benign
11:66468403	NM_006946.4(SPTBN2):c.3167G>A (p.Arg1056His)	NA	not provided	-43889	Uncertain significance
11:66468406	NM_006946.4(SPTBN2):c.3164G>A (p.Arg1055Gln)	NA	not provided	-43886	Uncertain significance
11:66468407	NM_006946.4(SPTBN2):c.3163C>A (p.Arg1055=)	rs138022806	not provided	-43885	Likely benign
11:66468454	NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)	rs148826890	Autosomal dominant cerebellar ataxia\|not provided\|not specified\|Spinocerebellar ataxia type 5	-43838	Benign/Likely benign
11:66468458	NM_006946.4(SPTBN2):c.3112G>A (p.Ala1038Thr)	rs549918589	not provided	-43834	Uncertain significance
11:66468459	NM_006946.4(SPTBN2):c.3111C>T (p.Asn1037=)	rs149124496	not provided	-43833	Benign
11:66468469	NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala)	rs506028	not specified\|Autosomal dominant cerebellar ataxia\|Spinocerebellar ataxia type 5\|not provided	-43823	Benign
11:66468469	NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala)	rs506028	not specified\|Autosomal dominant cerebellar ataxia\|Spinocerebellar ataxia type 5\|not provided	-43823	Benign
11:66468471	NM_006946.4(SPTBN2):c.3099A>G (p.Ala1033=)	NA	not provided	-43821	Likely benign
11:66468511	NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln)	rs758312194	not specified	-43781	Benign
11:66468513	NM_006946.4(SPTBN2):c.3057T>C (p.Thr1019=)	rs141552726	not specified	-43779	Likely benign
11:66468513	NM_006946.4(SPTBN2):c.3057T>A (p.Thr1019=)	rs141552726	not provided	-43779	Benign
11:66468522	NM_006946.4(SPTBN2):c.3048C>T (p.Gly1016=)	rs540897209	Autosomal dominant cerebellar ataxia	-43770	Uncertain significance
11:66468529	NM_006946.4(SPTBN2):c.3041G>A (p.Arg1014Gln)	NA	not provided	-43763	Uncertain significance
11:66468533	NM_006946.4(SPTBN2):c.3037G>A (p.Ala1013Thr)	NA	not provided	-43759	Uncertain significance
11:66468548	NM_006946.4(SPTBN2):c.3022C>G (p.Leu1008Val)	NA	not provided	-43744	Uncertain significance
11:66468558	NM_006946.4(SPTBN2):c.3012G>A (p.Thr1004=)	NA	not provided	-43734	Likely benign
11:66468559	NM_006946.4(SPTBN2):c.3011C>T (p.Thr1004Met)	NA	not provided	-43733	Uncertain significance
11:66468574	NM_006946.4(SPTBN2):c.2996G>A (p.Arg999His)	rs769417045	Spinocerebellar ataxia type 5	-43718	Uncertain significance
11:66468575	NM_006946.4(SPTBN2):c.2995C>T (p.Arg999Cys)	NA	not provided	-43717	Uncertain significance
11:66468597	NM_006946.4(SPTBN2):c.2973G>A (p.Leu991=)	NA	not provided	-43695	Likely benign
11:66468603	NM_006946.4(SPTBN2):c.2967C>T (p.Asn989=)	NA	not provided	-43689	Likely benign
11:66468615	NM_006946.4(SPTBN2):c.2955G>A (p.Gln985=)	rs1941221540	not provided	-43677	Uncertain significance
11:66468619	NM_006946.4(SPTBN2):c.2951C>A (p.Thr984Asn)	rs1941221838	not provided	-43673	Uncertain significance
11:66468626	NM_006946.4(SPTBN2):c.2944G>A (p.Glu982Lys)	rs777790247	not specified	-43666	Likely benign
11:66468636	NM_006946.4(SPTBN2):c.2934C>G (p.Thr978=)	rs777698637	not specified\|not provided	-43656	Benign/Likely benign
11:66468666	NM_006946.4(SPTBN2):c.2904G>A (p.Thr968=)	rs143948660	not specified\|not provided	-43626	Benign
11:66468674	NM_006946.4(SPTBN2):c.2895dup (p.Glu966fs)	rs1554982890	not provided	-43618	Uncertain significance
11:66468702	NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs)	rs373728971	Autosomal recessive spinocerebellar ataxia 14	-43590	Pathogenic
11:66468702	NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs)	rs373728971	Autosomal recessive spinocerebellar ataxia 14	-43590	Pathogenic
11:66468726	NM_006946.4(SPTBN2):c.2844C>T (p.Asp948=)	rs753959566	not specified	-43566	Benign
11:66468736	NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His)	rs377663856	Autosomal dominant cerebellar ataxia\|not provided	-43556	Conflicting interpretations of pathogenicity
11:66468760	NM_006946.4(SPTBN2):c.2817-7C>G	rs779776319	not provided	-43532	Uncertain significance
11:66468761	NM_006946.4(SPTBN2):c.2817-8G>T	rs142540439	not provided	-43531	Benign/Likely benign
11:66469032	NM_006946.4(SPTBN2):c.2816+23A>G	NA	not provided\|Autosomal recessive spinocerebellar ataxia 14\|Spinocerebellar ataxia type 5	-43260	Benign
11:66469033	NM_006946.4(SPTBN2):c.2816+22C>T	NA	not provided	-43259	Likely benign
11:66469050	NM_006946.4(SPTBN2):c.2816+5G>A	rs369265033	not provided	-43242	Uncertain significance
11:66469064	NM_006946.4(SPTBN2):c.2807T>C (p.Leu936Pro)	NA	not provided	-43228	Uncertain significance
11:66469092	NM_006946.4(SPTBN2):c.2779G>T (p.Asp927Tyr)	rs766125112	not provided	-43200	Uncertain significance
11:66469095	NM_006946.4(SPTBN2):c.2776A>G (p.Lys926Glu)	NA	not provided	-43197	Uncertain significance
11:66469100	NM_006946.4(SPTBN2):c.2771C>A (p.Pro924Gln)	rs147327184	not specified\|not provided	-43192	Benign/Likely benign
11:66469104	NM_006946.4(SPTBN2):c.2767C>A (p.Pro923Thr)	NA	not provided	-43188	Uncertain significance
11:66469138	NM_006946.4(SPTBN2):c.2733G>C (p.Val911=)	NA	not provided	-43154	Likely benign
11:66469142	NM_006946.4(SPTBN2):c.2729C>T (p.Ala910Val)	rs532746761	not provided	-43150	Uncertain significance
11:66469143	NM_006946.4(SPTBN2):c.2728G>T (p.Ala910Ser)	NA	not provided	-43149	Uncertain significance
11:66469144	NM_006946.4(SPTBN2):c.2727C>T (p.Thr909=)	rs373647590	not provided	-43148	Likely benign
11:66469186	NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=)	rs758091474	Autosomal dominant cerebellar ataxia\|not provided	-43106	Conflicting interpretations of pathogenicity
11:66469188	NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys)	rs145702618	Autosomal dominant cerebellar ataxia\|Autosomal recessive spinocerebellar ataxia 14;Spinocerebellar ataxia type 5	-43104	Uncertain significance
11:66469205	NM_006946.4(SPTBN2):c.2679-13T>C	NA	not provided	-43087	Likely benign
11:66471861	NM_006946.4(SPTBN2):c.2678+208C>G	NA	not provided	-40431	Likely benign
11:66472019	NM_006946.4(SPTBN2):c.2678+50G>T	NA	not provided	-40273	Benign
11:66472057	NM_006946.4(SPTBN2):c.2678+12A>C	NA	not provided	-40235	Benign
11:66472100	NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys)	rs761263852	not provided	-40192	Uncertain significance
11:66472116	NM_006946.4(SPTBN2):c.2631G>C (p.Gly877=)	rs77593272	not provided	-40176	Benign
11:66472124	NM_006946.4(SPTBN2):c.2623C>T (p.Leu875Phe)	rs906936058	not provided	-40168	Uncertain significance
11:66472145	NM_006946.4(SPTBN2):c.2602G>A (p.Val868Met)	rs1424804035	not provided	-40147	Uncertain significance
11:66472173	NM_006946.4(SPTBN2):c.2574C>T (p.Leu858=)	rs559959631	not provided\|not specified	-40119	Benign
11:66472189	NM_006946.4(SPTBN2):c.2558C>T (p.Ala853Val)	NA	Spinocerebellar ataxia type 5	-40103	Uncertain significance
11:66472210	NM_006946.4(SPTBN2):c.2537G>A (p.Arg846Gln)	rs1428439827	not provided	-40082	Uncertain significance
11:66472211	NM_006946.4(SPTBN2):c.2536C>T (p.Arg846Trp)	NA	not provided	-40081	Uncertain significance
11:66472212	NM_006946.4(SPTBN2):c.2535G>A (p.Ala845=)	rs754302613	not provided	-40080	Likely benign
11:66472221	NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=)	rs144939155	Autosomal dominant cerebellar ataxia\|not provided	-40071	Benign/Likely benign
11:66472244	NM_006946.4(SPTBN2):c.2503G>A (p.Glu835Lys)	rs36054877	not provided\|not specified	-40048	Benign/Likely benign
11:66472252	NM_006946.4(SPTBN2):c.2495G>A (p.Arg832Gln)	rs749281906	not provided	-40040	Benign
11:66472274	NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly)	rs4930388	not specified\|not provided\|Autosomal recessive spinocerebellar ataxia 14\|Spinocerebellar ataxia type 5	-40018	Benign
11:66472274	NM_006946.4(SPTBN2):c.2473= (p.Ser825=)	rs4930388	Spinocerebellar ataxia type 5\|not provided	-40018	Benign
11:66472283	NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys)	rs771402351	not provided	-40009	Uncertain significance
11:66472284	NM_006946.4(SPTBN2):c.2463C>T (p.Pro821=)	NA	not provided	-40008	Likely benign
11:66472287	NM_006946.4(SPTBN2):c.2460G>A (p.Thr820=)	NA	not provided	-40005	Likely benign
11:66472288	NM_006946.4(SPTBN2):c.2459C>T (p.Thr820Met)	NA	not provided	-40004	Likely benign
11:66472292	NM_006946.4(SPTBN2):c.2455C>T (p.Arg819Cys)	NA	not specified\|not provided	-40000	Conflicting interpretations of pathogenicity
11:66472302	NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=)	rs766115824	Autosomal dominant cerebellar ataxia\|not provided	-39990	Conflicting interpretations of pathogenicity
11:66472303	NM_006946.4(SPTBN2):c.2444C>T (p.Pro815Leu)	rs750520015	not provided	-39989	Likely benign
11:66472335	NM_006946.4(SPTBN2):c.2412C>T (p.Asp804=)	rs770555771	Autosomal dominant cerebellar ataxia\|not provided	-39957	Conflicting interpretations of pathogenicity
11:66472348	NM_006946.4(SPTBN2):c.2399G>A (p.Arg800Gln)	NA	not provided	-39944	Likely benign
11:66472364	NM_006946.4(SPTBN2):c.2383G>A (p.Glu795Lys)	rs1387465998	not provided	-39928	Uncertain significance
11:66472365	NM_006946.4(SPTBN2):c.2382G>A (p.Glu794_Glu795=)	NA	not provided	-39927	Likely benign
11:66472378	NM_006946.4(SPTBN2):c.2369G>A (p.Arg790Gln)	NA	not provided	-39914	Uncertain significance
11:66472416	NM_006946.4(SPTBN2):c.2331C>T (p.His777=)	rs746800875	not provided	-39876	Likely benign
11:66472428	NM_006946.4(SPTBN2):c.2319C>T (p.Pro773=)	rs149067190	not provided	-39864	Benign
11:66472475	NM_006946.4(SPTBN2):c.2272G>T (p.Asp758Tyr)	rs894025675	not provided	-39817	Uncertain significance
11:66472485	NM_006946.4(SPTBN2):c.2262C>T (p.Ala754=)	rs368022952	not specified\|not provided	-39807	Benign/Likely benign
11:66472491	NM_006946.4(SPTBN2):c.2256C>T (p.Phe752=)	rs780850736	not provided	-39801	Likely benign
11:66472509	NM_006946.4(SPTBN2):c.2238C>T (p.Ala746=)	rs555186039	not provided	-39783	Likely benign
11:66472523	NM_006946.4(SPTBN2):c.2224C>T (p.Arg742Trp)	NA	not provided	-39769	Uncertain significance
11:66472531	NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His)	NA	not provided	-39761	Uncertain significance
11:66472538	NM_006946.4(SPTBN2):c.2209G>A (p.Glu737Lys)	NA	not provided	-39754	Uncertain significance
11:66472539	NM_006946.4(SPTBN2):c.2208C>T (p.Ala736=)	NA	not provided	-39753	Likely benign
11:66472585	NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His)	rs200016211	Autosomal recessive cerebellar ataxia\|Autosomal dominant cerebellar ataxia\|not provided	-39707	Uncertain significance
11:66472586	NM_006946.4(SPTBN2):c.2161C>T (p.Arg721Cys)	rs757150924	not provided	-39706	Uncertain significance
11:66472650	NM_006946.4(SPTBN2):c.2097C>T (p.Leu699=)	NA	not provided	-39642	Likely benign
11:66472683	NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=)	rs376219874	Autosomal dominant cerebellar ataxia\|not provided	-39609	Conflicting interpretations of pathogenicity
11:66472688	NM_006946.4(SPTBN2):c.2059C>T (p.Arg687Trp)	NA	not provided	-39604	Uncertain significance
11:66472697	NM_006946.4(SPTBN2):c.2050A>G (p.Thr684Ala)	NA	not provided	-39595	Uncertain significance
11:66472724	NM_006946.4(SPTBN2):c.2023G>C (p.Gly675Arg)	rs776861052	not provided	-39568	Uncertain significance
11:66472725	NM_006946.4(SPTBN2):c.2022C>T (p.Thr674=)	rs377439463	not provided\|not specified	-39567	Benign/Likely benign
11:66472735	NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln)	rs1443491358	Spinocerebellar ataxia type 5	-39557	Uncertain significance
11:66472741	NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met)	rs775522542	not provided	-39551	Uncertain significance
11:66472746	NM_006946.4(SPTBN2):c.2001C>T (p.Ala667=)	NA	not provided	-39546	Likely benign
11:66472749	NM_006946.4(SPTBN2):c.1998A>G (p.Ser666=)	rs750192032	not provided	-39543	Likely benign
11:66472774	NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)	rs753491527	Spinocerebellar ataxia type 5	-39518	Conflicting interpretations of pathogenicity
11:66472775	NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp)	rs199968321	Autosomal dominant cerebellar ataxia\|not specified\|not provided	-39517	Benign/Likely benign
11:66472798	NM_006946.4(SPTBN2):c.1949T>C (p.Val650Ala)	rs1011637037	not provided	-39494	Uncertain significance
11:66472813	NM_006946.4(SPTBN2):c.1934G>A (p.Arg645His)	NA	not provided	-39479	Uncertain significance
11:66472818	NM_006946.4(SPTBN2):c.1929C>G (p.Leu643=)	rs747355437	not provided	-39474	Benign/Likely benign
11:66472823	NM_006946.4(SPTBN2):c.1924C>T (p.Arg642Trp)	NA	not provided	-39469	Uncertain significance
11:66472825	NM_006946.4(SPTBN2):c.1922G>A (p.Arg641Gln)	NA	not provided	-39467	Uncertain significance
11:66472827	NM_006946.4(SPTBN2):c.1896_1919dup (p.Ala635_Arg642dup)	rs1554984826	Inborn genetic diseases	-39465	Uncertain significance
11:66472832	NM_006946.4(SPTBN2):c.1915G>T (p.Glu639Ter)	rs769987150	Inborn genetic diseases	-39460	Pathogenic
11:66472832	NM_006946.4(SPTBN2):c.1915G>T (p.Glu639Ter)	rs769987150	Inborn genetic diseases	-39460	Pathogenic
11:66472833	NM_006946.4(SPTBN2):c.1914G>A (p.Glu638=)	NA	not provided	-39459	Likely benign
11:66472841	NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp)	rs773155491	not provided	-39451	Conflicting interpretations of pathogenicity
11:66472847	NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp)	rs1941485201	Spinocerebellar ataxia type 5	-39445	Pathogenic
11:66472847	NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp)	rs1941485201	Spinocerebellar ataxia type 5	-39445	Pathogenic
11:66472847	NM_006946.4(SPTBN2):c.1900C>T (p.Arg634Trp)	NA	not provided	-39445	Uncertain significance
11:66472852	NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val)	NA	Autosomal recessive spinocerebellar ataxia 14\|not provided	-39440	Uncertain significance
11:66472855	NM_006946.4(SPTBN2):c.1892C>T (p.Ala631Val)	NA	not provided	-39437	Uncertain significance
11:66472865	NM_006946.4(SPTBN2):c.1882G>A (p.Glu628Lys)	rs1027470381	not provided	-39427	Uncertain significance
11:66472866	NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter)	rs146859515	Autosomal recessive spinocerebellar ataxia 14	-39426	Pathogenic
11:66472866	NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter)	rs146859515	Autosomal recessive spinocerebellar ataxia 14	-39426	Pathogenic
11:66472870	NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)	rs1554984881	Spinocerebellar ataxia type 5\|not provided\|not specified	-39422	Conflicting interpretations of pathogenicity
11:66472895	NM_006946.4(SPTBN2):c.1852A>G (p.Lys618Glu)	NA	See cases	-39397	Uncertain significance
11:66472903	NM_006946.4(SPTBN2):c.1844G>A (p.Arg615Gln)	NA	not provided	-39389	Uncertain significance
11:66472904	NM_006946.4(SPTBN2):c.1843C>T (p.Arg615Trp)	NA	Autosomal recessive spinocerebellar ataxia 14	-39388	Likely pathogenic
11:66472908	NM_006946.4(SPTBN2):c.1839G>A (p.Ser613=)	rs774265056	Autosomal dominant cerebellar ataxia	-39384	Uncertain significance
11:66472909	NM_006946.4(SPTBN2):c.1838C>T (p.Ser613Leu)	NA	not provided	-39383	Uncertain significance
11:66472911	NM_006946.4(SPTBN2):c.1836G>A (p.Val612=)	rs770762674	not provided	-39381	Likely benign
11:66472920	NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=)	rs776570497	Autosomal dominant cerebellar ataxia\|not specified	-39372	Conflicting interpretations of pathogenicity
11:66473137	NM_006946.4(SPTBN2):c.1807+18G>A	NA	not provided	-39155	Likely benign
11:66473137	NM_006946.4(SPTBN2):c.1807+18G>T	NA	not provided	-39155	Likely benign
11:66473142	NM_006946.4(SPTBN2):c.1807+13C>T	rs151122248	Autosomal dominant cerebellar ataxia\|Autosomal recessive spinocerebellar ataxia 14\|not provided	-39150	Benign/Likely benign
11:66473176	NM_006946.4(SPTBN2):c.1786C>T (p.Arg596Cys)	NA	not provided	-39116	Uncertain significance
11:66473180	NM_006946.4(SPTBN2):c.1782C>T (p.Ala594=)	rs377312636	not specified	-39112	Benign
11:66473194	NM_006946.4(SPTBN2):c.1768G>A (p.Val590Ile)	rs780059779	not provided	-39098	Likely benign
11:66473198	NM_006946.4(SPTBN2):c.1764G>A (p.Arg588=)	rs116534626	not provided\|not specified	-39094	Benign
11:66473209	NM_006946.4(SPTBN2):c.1753G>A (p.Glu585Lys)	NA	not provided	-39083	Uncertain significance
11:66473240	NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=)	rs143083152	Autosomal dominant cerebellar ataxia\|Autosomal recessive cerebellar ataxia\|not provided	-39052	Benign/Likely benign
11:66473242	NM_006946.4(SPTBN2):c.1720G>A (p.Glu574Lys)	rs372241839	Autosomal dominant cerebellar ataxia	-39050	Uncertain significance
11:66473243	NM_006946.4(SPTBN2):c.1719C>T (p.His573=)	rs148207416	not specified\|Autosomal dominant cerebellar ataxia\|not provided	-39049	Conflicting interpretations of pathogenicity
11:66473243	NM_006946.4(SPTBN2):c.1719C>T (p.His573=)	rs148207416	not specified\|Autosomal dominant cerebellar ataxia\|not provided	-39049	Conflicting interpretations of pathogenicity
11:66473261	NM_006946.4(SPTBN2):c.1701G>A (p.Glu567=)	rs1380619480	not provided	-39031	Uncertain significance
11:66473286	NM_006946.4(SPTBN2):c.1676T>C (p.Leu559Pro)	NA	not provided	-39006	Uncertain significance
11:66473305	NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp)	rs116099040	not provided	-38987	Conflicting interpretations of pathogenicity
11:66473313	NM_006946.4(SPTBN2):c.1654-5G>A	NA	not provided	-38979	Uncertain significance
11:66473321	NM_006946.4(SPTBN2):c.1654-13G>A	rs200980512	Spinocerebellar ataxia type 5\|Autosomal recessive spinocerebellar ataxia 14\|not provided	-38971	Conflicting interpretations of pathogenicity
11:66474973	NM_006946.4(SPTBN2):c.1653+14G>A	NA	not provided	-37319	Likely benign
11:66474974	NM_006946.4(SPTBN2):c.1653+13C>T	rs376349935	not specified\|Autosomal recessive spinocerebellar ataxia 14\|not provided	-37318	Conflicting interpretations of pathogenicity
11:66474993	NM_006946.4(SPTBN2):c.1647G>A (p.Glu549=)	rs1590953093	not provided	-37299	Likely benign
11:66475006	NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)	rs1554985851	Spinocerebellar ataxia type 5\|not provided	-37286	Pathogenic
11:66475059	NM_006946.4(SPTBN2):c.1580_1581delinsGG (p.Leu527Arg)	NA	not provided	-37233	Uncertain significance
11:66475069	NM_006946.4(SPTBN2):c.1571G>A (p.Arg524Gln)	rs1478933802	not provided	-37223	Likely benign
11:66475077	NM_006946.4(SPTBN2):c.1563C>T (p.Ala521=)	rs370685694	not provided	-37215	Likely benign
11:66475091	NM_006946.4(SPTBN2):c.1549C>G (p.Arg517Gly)	rs371919862	Spinocerebellar ataxia type 5	-37201	Uncertain significance
11:66475116	NM_006946.4(SPTBN2):c.1524C>T (p.Asn508=)	NA	not specified	-37176	Likely benign
11:66475118	NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His)	NA	Spinocerebellar ataxia type 5\|not provided	-37174	Uncertain significance
11:66475127	NM_006946.4(SPTBN2):c.1513C>T (p.Arg505Trp)	NA	not provided	-37165	Uncertain significance
11:66475129	NM_006946.4(SPTBN2):c.1511C>G (p.Ala504Gly)	NA	not provided	-37163	Uncertain significance
11:66475136	NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val)	NA	not provided	-37156	Conflicting interpretations of pathogenicity
11:66475139	NM_006946.4(SPTBN2):c.1501C>T (p.Arg501Cys)	rs780836225	not provided	-37153	Uncertain significance
11:66475145	NM_006946.4(SPTBN2):c.1495A>T (p.Ile499Phe)	NA	not provided	-37147	Uncertain significance
11:66475156	NM_006946.4(SPTBN2):c.1484G>A (p.Arg495His)	NA	not provided	-37136	Uncertain significance
11:66475158	NM_006946.4(SPTBN2):c.1482G>T (p.Glu494Asp)	rs372109002	not provided	-37134	Likely benign
11:66475161	NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=)	rs150837212	Autosomal dominant cerebellar ataxia\|not provided	-37131	Conflicting interpretations of pathogenicity
11:66475183	NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp)	rs763948508	not specified\|not provided	-37109	Conflicting interpretations of pathogenicity
11:66475184	NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)	rs143155918	not provided\|not specified\|Spinocerebellar ataxia type 5	-37108	Conflicting interpretations of pathogenicity
11:66475196	NM_006946.4(SPTBN2):c.1444C>T (p.Gln482Ter)	NA	not provided	-37096	Pathogenic
11:66475202	NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749	Spinocerebellar ataxia type 5\|not provided	-37090	Conflicting interpretations of pathogenicity
11:66475202	NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749	Spinocerebellar ataxia type 5\|not provided	-37090	Conflicting interpretations of pathogenicity
11:66475205	NM_006946.4(SPTBN2):c.1435G>A (p.Gly479Ser)	rs1486743242	not provided	-37087	Uncertain significance
11:66475206	NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=)	rs35463342	Autosomal dominant cerebellar ataxia\|not provided	-37086	Benign/Likely benign
11:66475224	NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=)	rs145249947	Spinocerebellar ataxia type 5\|not provided	-37068	Benign/Likely benign
11:66475247	NM_006946.4(SPTBN2):c.1393C>G (p.Arg465Gly)	rs1017538609	not specified	-37045	Uncertain significance
11:66475270	NM_006946.4(SPTBN2):c.1370T>C (p.Leu457Pro)	NA	Autosomal recessive spinocerebellar ataxia 14	-37022	Uncertain significance
11:66475276	NM_006946.4(SPTBN2):c.1364T>C (p.Leu455Pro)	NA	not provided	-37016	Uncertain significance
11:66475296	NM_006946.4(SPTBN2):c.1351-7G>A	rs116078747	Spinocerebellar ataxia type 5\|not provided\|Autosomal recessive spinocerebellar ataxia 14\|not specified	-36996	Benign/Likely benign
11:66475296	NM_006946.4(SPTBN2):c.1351-7G>T	rs116078747	Spinocerebellar ataxia type 5\|not provided\|Autosomal recessive spinocerebellar ataxia 14	-36996	Benign/Likely benign
11:66475297	NM_006946.4(SPTBN2):c.1351-8C>T	NA	not provided	-36995	Likely benign
11:66475595	NM_006946.4(SPTBN2):c.1350+17C>T	NA	not provided	-36697	Likely benign
11:66475601	NM_006946.4(SPTBN2):c.1350+11A>C	NA	not provided	-36691	Likely benign
11:66475626	NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys)	rs147422843	not provided	-36666	Uncertain significance
11:66475639	NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=)	rs764447133	Spinocerebellar ataxia type 5\|not specified	-36653	Benign/Likely benign
11:66475652	NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)	rs1554986337	not provided\|Spinocerebellar ataxia type 5	-36640	Pathogenic/Likely pathogenic
11:66475653	NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)	rs1941669517	Spinocerebellar ataxia type 5	-36639	Likely pathogenic
11:66475655	NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)	rs1554986345	not provided\|Spinocerebellar ataxia type 5	-36637	Likely pathogenic
11:66475659	NM_006946.4(SPTBN2):c.1303G>A (p.Ala435Thr)	rs751975483	not provided	-36633	Uncertain significance
11:66475672	NM_006946.4(SPTBN2):c.1290C>T (p.Phe430=)	rs538691061	not provided	-36620	Likely benign
11:66475681	NM_006946.4(SPTBN2):c.1281C>T (p.Ala427=)	rs374787500	Autosomal dominant cerebellar ataxia	-36611	Uncertain significance
11:66475684	NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del)	rs1590955348	Spinocerebellar ataxia type 5	-36608	Likely pathogenic
11:66475696	NM_006946.4(SPTBN2):c.1266G>C (p.Lys422Asn)	rs770892589	not provided	-36596	Uncertain significance
11:66475696	NM_006946.4(SPTBN2):c.1266G>C (p.Lys422Asn)	rs770892589	not provided	-36596	Uncertain significance
11:66475699	NM_006946.4(SPTBN2):c.1261_1263del (p.Glu421del)	rs886041245	not provided	-36593	Pathogenic
11:66475711	NM_006946.4(SPTBN2):c.1251C>T (p.Leu417=)	NA	not provided	-36581	Likely benign
11:66475716	NM_006946.4(SPTBN2):c.1246G>A (p.Glu416Lys)	NA	not provided	-36576	Uncertain significance
11:66475717	NM_006946.4(SPTBN2):c.1245C>A (p.Thr415=)	rs146719338	not specified	-36575	Benign
11:66475722	NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys)	rs1318256630	Autosomal recessive spinocerebellar ataxia 14	-36570	Pathogenic
11:66475741	NM_006946.4(SPTBN2):c.1221C>T (p.His407=)	rs143596433	Autosomal dominant cerebellar ataxia\|not provided\|not specified	-36551	Benign/Likely benign
11:66475748	NM_006946.4(SPTBN2):c.1214C>T (p.Ala405Val)	NA	not provided	-36544	Uncertain significance
11:66475761	NM_006946.4(SPTBN2):c.1201C>T (p.Arg401Trp)	NA	not provided	-36531	Uncertain significance
11:66475775	NM_006946.4(SPTBN2):c.1192-5C>T	rs910982125	not provided	-36517	Likely benign
11:66475894	NM_006946.4(SPTBN2):c.1192-124C>T	NA	not provided	-36398	Likely benign
11:66476356	NM_006946.4(SPTBN2):c.1191+17A>G	NA	not provided	-35936	Likely benign
11:66476403	NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=)	rs74909073	Autosomal dominant cerebellar ataxia\|not provided	-35889	Benign/Likely benign
11:66476404	NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His)	rs772590586	not provided\|Spinocerebellar ataxia type 5	-35888	Uncertain significance
11:66476405	NM_006946.4(SPTBN2):c.1159C>T (p.Arg387Cys)	NA	not provided	-35887	Uncertain significance
11:66476409	NM_006946.4(SPTBN2):c.1155G>A (p.Thr385=)	NA	not provided	-35883	Likely benign
11:66476435	NM_006946.4(SPTBN2):c.1129C>T (p.Arg377Trp)	rs199861592	not provided	-35857	Uncertain significance
11:66476500	NM_006946.4(SPTBN2):c.1074-10C>G	NA	not provided	-35792	Uncertain significance
11:66476506	NM_006946.4(SPTBN2):c.1074-16C>T	NA	not provided	-35786	Likely benign
11:66476652	NM_006946.4(SPTBN2):c.1074-176AAAAT[2]	NA	not provided	-35640	Benign
11:66476730	NM_006946.4(SPTBN2):c.1074-240G>A	NA	not provided	-35562	Benign
11:66477865	NM_006946.4(SPTBN2):c.1073+188del	NA	not provided	-34427	Benign
11:66477941	NM_006946.4(SPTBN2):c.1073+112A>G	NA	not provided	-34351	Likely benign
11:66478049	NM_006946.4(SPTBN2):c.1073+4G>A	rs539652266	not provided	-34243	Uncertain significance
11:66478058	NM_006946.4(SPTBN2):c.1068G>A (p.Pro356=)	rs150080880	not specified\|not provided	-34234	Benign
11:66478067	NM_006946.4(SPTBN2):c.1059G>A (p.Val353=)	NA	not provided	-34225	Uncertain significance
11:66478069	NM_006946.4(SPTBN2):c.1057G>A (p.Val353Met)	NA	not provided	-34223	Uncertain significance
11:66478074	NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro)	rs541484241	Spinocerebellar ataxia type 5	-34218	Likely pathogenic
11:66478083	NM_006946.4(SPTBN2):c.1043A>T (p.Asn348Ile)	rs797046005	not specified	-34209	Likely pathogenic
11:66478083	NM_006946.4(SPTBN2):c.1043A>T (p.Asn348Ile)	rs797046005	not specified	-34209	Likely pathogenic
11:66478084	NM_006946.4(SPTBN2):c.1042A>G (p.Asn348Asp)	rs1554987311	not specified	-34208	Likely pathogenic
11:66478112	NM_006946.4(SPTBN2):c.1014C>T (p.Ser338=)	rs138740917	not provided	-34180	Likely benign
11:66478115	NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=)	rs34275473	Autosomal dominant cerebellar ataxia\|not provided	-34177	Benign/Likely benign
11:66478155	NM_006946.4(SPTBN2):c.971C>T (p.Thr324Met)	rs766259767	not provided	-34137	Uncertain significance
11:66478158	NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg)	rs190532690	Autosomal recessive cerebellar ataxia\|Autosomal dominant cerebellar ataxia\|not provided	-34134	Conflicting interpretations of pathogenicity
11:66478162	NM_006946.4(SPTBN2):c.964G>A (p.Glu322Lys)	rs759451802	not provided	-34130	Likely benign
11:66478163	NM_006946.4(SPTBN2):c.963C>T (p.Ile321=)	rs1456985458	not specified\|not provided	-34129	Benign/Likely benign
11:66478181	NM_006946.4(SPTBN2):c.945G>A (p.Ser315=)	rs758056414	not provided	-34111	Likely benign
11:66478202	NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp)	rs564046722	Autosomal dominant cerebellar ataxia\|not provided	-34090	Likely benign
11:66478213	NM_006946.4(SPTBN2):c.913C>T (p.Arg305Cys)	NA	not specified	-34079	Uncertain significance
11:66478225	NM_006946.4(SPTBN2):c.901A>G (p.Met301Val)	rs897181468	Spinocerebellar ataxia type 5	-34067	Uncertain significance
11:66478383	NM_006946.4(SPTBN2):c.885+5T>C	rs114331192	Spinocerebellar ataxia type 5\|not provided\|Autosomal recessive spinocerebellar ataxia 14	-33909	Benign/Likely benign
11:66478418	NM_006946.4(SPTBN2):c.855C>A (p.Ala285=)	rs373123134	not provided	-33874	Likely benign
11:66478440	NM_006946.4(SPTBN2):c.833A>C (p.His278Pro)	NA	not provided	-33852	Uncertain significance
11:66478461	NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)	rs1941829953	Spinocerebellar ataxia type 5	-33831	Likely pathogenic
11:66478479	NM_006946.4(SPTBN2):c.794A>T (p.Asp265Val)	rs1941830514	not provided	-33813	Uncertain significance
11:66478479	NM_006946.4(SPTBN2):c.794A>G (p.Asp265Gly)	rs1941830514	not provided	-33813	Uncertain significance
11:66478480	NM_006946.4(SPTBN2):c.793G>C (p.Asp265His)	NA	not provided	-33812	Likely pathogenic
11:66478499	NM_006946.4(SPTBN2):c.774C>G (p.Asp258Glu)	rs139240091	not provided\|Inborn genetic diseases	-33793	Uncertain significance
11:66478499	NM_006946.4(SPTBN2):c.774C>T (p.Asp258=)	rs139240091	not provided	-33793	Likely benign
11:66478505	NM_006946.4(SPTBN2):c.773-5T>C	rs1941832250	Spinocerebellar ataxia type 5	-33787	Uncertain significance
11:66480791	NM_006946.4(SPTBN2):c.772+311A>C	NA	not provided	-31501	Benign
11:66481106	NM_006946.4(SPTBN2):c.768C>T (p.Pro256=)	rs201821131	not provided	-31186	Benign
11:66481116	NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)	rs121918306	Spinocerebellar ataxia type 5\|not provided	-31176	Pathogenic
11:66481116	NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)	rs121918306	Spinocerebellar ataxia type 5\|not provided	-31176	Pathogenic
11:66481122	NM_006946.4(SPTBN2):c.752C>T (p.Thr251Ile)	rs373650492	not provided	-31170	Uncertain significance
11:66481149	NM_006946.4(SPTBN2):c.725A>G (p.Asn242Ser)	NA	not provided	-31143	Uncertain significance
11:66481170	NM_006946.4(SPTBN2):c.704A>G (p.Tyr235Cys)	NA	not provided	-31122	Uncertain significance
11:66481182	NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr)	NA	not provided	-31110	Uncertain significance
11:66481224	NM_006946.4(SPTBN2):c.657-7C>G	rs758925003	Spinocerebellar ataxia type 5\|Autosomal recessive spinocerebellar ataxia 14	-31068	Uncertain significance
11:66481264	NM_006946.4(SPTBN2):c.657-47G>A	NA	not provided\|Spinocerebellar ataxia type 5\|Autosomal recessive spinocerebellar ataxia 14	-31028	Benign
11:66481549	NM_006946.4(SPTBN2):c.656+13G>A	NA	not provided	-30743	Likely benign
11:66481563	NM_006946.4(SPTBN2):c.655C>T (p.Arg219Trp)	rs770733211	not specified	-30729	Uncertain significance
11:66481628	NM_006946.4(SPTBN2):c.590A>G (p.Asn197Ser)	rs148154681	not specified	-30664	Benign
11:66481633	NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)	rs34775878	not specified\|Autosomal dominant cerebellar ataxia\|Spinocerebellar ataxia type 5\|not provided	-30659	Benign/Likely benign
11:66481633	NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)	rs34775878	not specified\|Autosomal dominant cerebellar ataxia\|Spinocerebellar ataxia type 5\|not provided	-30659	Benign/Likely benign
11:66481770	NM_006946.4(SPTBN2):c.575+17C>T	NA	not provided	-30522	Likely benign
11:66481776	NM_006946.4(SPTBN2):c.575+11C>T	NA	not provided	-30516	Likely benign
11:66481830	NM_006946.4(SPTBN2):c.532G>A (p.Ala178Thr)	rs1057524761	not provided	-30462	Likely pathogenic
11:66481837	NM_006946.4(SPTBN2):c.525G>A (p.Lys175=)	NA	not provided	-30455	Likely benign
11:66481855	NM_006946.4(SPTBN2):c.507A>G (p.Thr169=)	NA	not provided	-30437	Likely benign
11:66482002	NM_006946.4(SPTBN2):c.484-124G>A	NA	not provided	-30290	Likely benign
11:66482642	NM_006946.4(SPTBN2):c.483+51C>T	NA	not provided	-29650	Likely benign
11:66482700	NM_006946.4(SPTBN2):c.476G>A (p.Arg159Gln)	rs886048552	Autosomal dominant cerebellar ataxia	-29592	Uncertain significance
11:66482706	NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr)	rs875989881	Spinocerebellar ataxia type 5	-29586	Likely pathogenic
11:66482706	NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr)	rs875989881	Spinocerebellar ataxia type 5	-29586	Likely pathogenic
11:66482707	NM_006946.4(SPTBN2):c.469A>T (p.Ile157Phe)	NA	not provided	-29585	Uncertain significance
11:66482719	NM_006946.4(SPTBN2):c.457G>C (p.Val153Leu)	rs1554989084	not specified	-29573	Uncertain significance
11:66482770	NM_006946.4(SPTBN2):c.406A>G (p.Met136Val)	rs150610657	Autosomal dominant cerebellar ataxia\|not provided	-29522	Conflicting interpretations of pathogenicity
11:66482834	NM_006946.4(SPTBN2):c.342C>T (p.His114=)	NA	not provided	-29458	Likely benign
11:66482869	NM_006946.4(SPTBN2):c.310-3C>T	rs1942089988	not provided	-29423	Uncertain significance
11:66482878	NM_006946.4(SPTBN2):c.310-12G>A	NA	not provided	-29414	Likely benign
11:66482987	NM_006946.4(SPTBN2):c.310-121G>A	NA	not provided	-29305	Likely benign
11:66483174	NM_006946.4(SPTBN2):c.309+127G>A	NA	not provided	-29118	Likely benign
11:66483265	NM_006946.4(SPTBN2):c.309+36T>C	NA	not provided\|Autosomal recessive spinocerebellar ataxia 14\|Spinocerebellar ataxia type 5	-29027	Benign
11:66483313	NM_006946.4(SPTBN2):c.297G>A (p.Ser99=)	rs762103483	not provided	-28979	Likely benign
11:66483325	NM_006946.4(SPTBN2):c.285C>T (p.Leu95=)	rs34117933	Autosomal dominant cerebellar ataxia\|Spinocerebellar ataxia type 5\|not provided	-28967	Benign/Likely benign
11:66483344	NM_006946.4(SPTBN2):c.266G>A (p.Arg89His)	NA	not provided	-28948	Uncertain significance
11:66483345	NM_006946.4(SPTBN2):c.265C>T (p.Arg89Cys)	rs1565151375	not provided	-28947	Uncertain significance
11:66483349	NM_006946.4(SPTBN2):c.261C>T (p.Asp87=)	rs748129999	not provided	-28943	Likely benign
11:66483361	NM_006946.4(SPTBN2):c.249C>T (p.Ser83=)	rs141552965	Autosomal dominant cerebellar ataxia\|not provided	-28931	Benign/Likely benign
11:66483376	NM_006946.4(SPTBN2):c.234G>A (p.Val78=)	rs78309877	Autosomal dominant cerebellar ataxia\|not provided\|not specified	-28916	Benign/Likely benign
11:66483378	NM_006946.4(SPTBN2):c.232G>A (p.Val78Met)	rs149918123	not provided	-28914	Uncertain significance
11:66483381	NM_006946.4(SPTBN2):c.229C>T (p.Arg77Trp)	rs200956071	not provided	-28911	Uncertain significance
11:66483381	NM_006946.4(SPTBN2):c.229C>T (p.Arg77Trp)	rs200956071	not provided	-28911	Uncertain significance
11:66483403	NM_006946.4(SPTBN2):c.207G>T (p.Ser69=)	rs748341964	Autosomal dominant cerebellar ataxia	-28889	Uncertain significance
11:66483417	NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln)	NA	Spinocerebellar ataxia type 5	-28875	Likely pathogenic
11:66483420	NM_006946.4(SPTBN2):c.190A>G (p.Thr64Ala)	NA	not provided	-28872	Uncertain significance
11:66483421	NM_006946.4(SPTBN2):c.189C>G (p.Phe63Leu)	NA	not provided	-28871	Uncertain significance
11:66483425	NM_006946.4(SPTBN2):c.185C>A (p.Thr62Asn)	NA	not provided	-28867	Uncertain significance
11:66483429	NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu)	rs797046006	Cerebellar ataxia\|not provided	-28863	Likely pathogenic
11:66483429	NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu)	rs797046006	Cerebellar ataxia\|not provided	-28863	Likely pathogenic
11:66483438	NM_006946.4(SPTBN2):c.172G>A (p.Val58Met)	rs1554989512	not specified	-28854	Uncertain significance
11:66483442	NM_006946.4(SPTBN2):c.168A>G (p.Glu56=)	rs145112518	not provided	-28850	Benign/Likely benign
11:66483460	NM_006946.4(SPTBN2):c.158-8C>T	rs768464832	not provided	-28832	Likely benign
11:66483605	NM_006946.4(SPTBN2):c.158-153T>C	NA	not provided	-28687	Likely benign
11:66483669	NM_006946.4(SPTBN2):c.158-218_158-217insAAA	NA	not provided	-28623	Likely benign
11:66488539	NM_006946.4(SPTBN2):c.157+16G>A	NA	not provided	-23753	Benign
11:66488550	NM_006946.4(SPTBN2):c.157+5G>A	rs150159444	Spinocerebellar ataxia type 5\|not provided\|Autosomal recessive spinocerebellar ataxia 14	-23742	Conflicting interpretations of pathogenicity
11:66488550	NM_006946.4(SPTBN2):c.157+5G>A	rs150159444	Spinocerebellar ataxia type 5\|not provided\|Autosomal recessive spinocerebellar ataxia 14	-23742	Conflicting interpretations of pathogenicity
11:66488554	NM_006946.4(SPTBN2):c.157+1G>A	NA	Autosomal recessive spinocerebellar ataxia 14	-23738	Pathogenic
11:66488595	NM_006946.4(SPTBN2):c.117G>A (p.Ser39=)	rs142080780	not provided	-23697	Likely benign
11:66488620	NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)	rs147766428	not provided\|Spinocerebellar ataxia type 5;Autosomal recessive spinocerebellar ataxia 14	-23672	Conflicting interpretations of pathogenicity
11:66488621	NM_006946.4(SPTBN2):c.91T>C (p.Ser31Pro)	rs373669452	not specified	-23671	Uncertain significance
11:66488640	NM_006946.4(SPTBN2):c.72C>T (p.Asn24=)	NA	not provided	-23652	Likely benign
11:66488655	NM_006946.4(SPTBN2):c.57C>T (p.Tyr19=)	rs749188722	Autosomal dominant cerebellar ataxia	-23637	Uncertain significance
11:66488658	NM_006946.4(SPTBN2):c.54G>A (p.Gln18=)	rs377573278	Autosomal dominant cerebellar ataxia	-23634	Uncertain significance
11:66488688	NM_006946.4(SPTBN2):c.24A>G (p.Thr8=)	rs141277535	not provided	-23604	Conflicting interpretations of pathogenicity
11:66488694	NM_006946.4(SPTBN2):c.18A>G (p.Ser6=)	NA	not provided	-23598	Likely benign
11:66488743	NM_006946.4(SPTBN2):c.-22-10C>A	rs200435327	Spinocerebellar ataxia type 5\|Autosomal recessive spinocerebellar ataxia 14	-23549	Conflicting interpretations of pathogenicity
11:66488854	NM_006946.4(SPTBN2):c.-56C>T	rs527588843	Autosomal dominant cerebellar ataxia	-23438	Uncertain significance
11:66510646	NM_024649.5(BBS1):c.-3_37del (p.Met1fs)	rs113994178	Bardet-Biedl syndrome	-1646	Pathogenic
11:66510683	NM_024649.5(BBS1):c.24T>C (p.Asp8=)	rs55848325	not specified\|Bardet-Biedl syndrome\|Bardet-Biedl syndrome 1	-1609	Benign/Likely benign
11:66511010	NM_024649.5(BBS1):c.48-3C>G	rs869025204	Bardet-Biedl syndrome 1	-1282	Pathogenic
11:66512379	NM_001302084.2(C11orf80):c.-41G>C	NA	not provided	87	Uncertain significance
11:66514562	NM_024649.5(BBS1):c.316C>G (p.Leu106Val)	rs137853913	not provided\|Bardet-Biedl syndrome\|Bardet-Biedl syndrome 1\|not specified	2270	Uncertain significance
11:66514662	NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)	rs878855095	Bardet-Biedl syndrome\|Bardet-Biedl syndrome 1	2370	Conflicting interpretations of pathogenicity
11:66514679	NM_024649.5(BBS1):c.432+1G>A	rs587777829	Bardet-Biedl syndrome 1\|Bardet-Biedl syndrome\|not provided	2387	Pathogenic/Likely pathogenic
11:66515543	NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	rs786204444	Bardet-Biedl syndrome\|not provided\|Bardet-Biedl syndrome 1	3251	Pathogenic/Likely pathogenic
11:66519695	NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)	rs193922709	not specified\|Retinal dystrophy\|Bardet-Biedl syndrome\|Bardet-Biedl syndrome 1\|not provided	7403	Conflicting interpretations of pathogenicity
11:66519725	NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)	rs35520756	Bardet-Biedl syndrome\|not specified\|not provided\|Bardet-Biedl syndrome 1	7433	Benign/Likely benign
11:66521262	NM_024649.5(BBS1):c.724-8G>C	rs10896125	not specified\|Bardet-Biedl syndrome\|Bardet-Biedl syndrome 1\|not provided	8970	Benign
11:66523451	NM_024649.5(BBS1):c.831-5C>T	rs56177555	not specified\|Bardet-Biedl syndrome\|Bardet-Biedl syndrome 1\|not provided	11159	Conflicting interpretations of pathogenicity
11:66523453	NM_024649.5(BBS1):c.831-3C>G	rs113994179	Bardet-Biedl syndrome\|Bardet-Biedl syndrome 1	11161	Conflicting interpretations of pathogenicity
11:66523476	NM_024649.5(BBS1):c.851del (p.Tyr284fs)	rs587777830	Bardet-Biedl syndrome 1\|Bardet-Biedl syndrome	11184	Pathogenic
11:66523512	NM_024649.5(BBS1):c.887del (p.Ile296fs)	rs794727006	not provided\|Retinal dystrophy\|Bardet-Biedl syndrome	11220	Pathogenic
11:66523784	NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter)	rs869025205	Bardet-Biedl syndrome 1\|Bardet-Biedl syndrome	11492	Pathogenic
11:66526138	NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)	rs786204701	Bardet-Biedl syndrome\|not provided	13846	Pathogenic/Likely pathogenic
11:66526151	NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)	rs758139447	Bardet-Biedl syndrome\|not provided\|Bardet-Biedl syndrome 1\|not specified	13859	Uncertain significance
11:66526181	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	Bardet-Biedl syndrome 1\|not provided\|Bardet-Biedl syndrome\|Retinal dystrophy\|Retinitis pigmentosa\|Usher syndrome\|See cases	13889	Pathogenic/Likely pathogenic
11:66526753	NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	rs768443448	Bardet-Biedl syndrome\|Bardet-Biedl syndrome 1\|not provided	14461	Pathogenic/Likely pathogenic
11:66529817	NM_024649.5(BBS1):c.1340-2A>G	rs113994180	Bardet-Biedl syndrome	17525	Pathogenic
11:66529828	NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln)	rs77298332	not specified\|Bardet-Biedl syndrome\|Bardet-Biedl syndrome 1	17536	Benign
11:66530886	NM_024649.5(BBS1):c.1474-8C>T	rs398124402	not provided\|Bardet-Biedl syndrome	18594	Conflicting interpretations of pathogenicity
11:66530955	NM_024649.5(BBS1):c.1535G>A (p.Arg512His)	rs202205304	Bardet-Biedl syndrome 1\|not specified\|Bardet-Biedl syndrome	18663	Uncertain significance
11:66530973	NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	rs121917778	Bardet-Biedl syndrome 1\|Bardet-Biedl syndrome\|Retinal dystrophy\|not provided	18681	Conflicting interpretations of pathogenicity
11:66530988	NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)	rs863224782	Bardet-Biedl syndrome\|Bardet-Biedl syndrome 1	18696	Uncertain significance
11:66531692	NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	rs121917777	Bardet-Biedl syndrome 1\|Bardet-Biedl syndrome\|not provided\|Retinitis pigmentosa	19400	Pathogenic/Likely pathogenic
11:66560624	NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter)	rs1815739	ACTININ, ALPHA-3 POLYMORPHISM\|Actn3 deficiency\|Sprinting performance	48332	Conflicting interpretations of pathogenicity; Affects

Position	Type	Class	Distance	Location with respect to STR
11:66511334-66511631	AluSq2	SINE	-958	downstream
11:66513264-66513578	AluSz	SINE	972	upstream
11:66513777-66513911	AluJb	SINE	1485	upstream
11:66513911-66514197	AluSp	SINE	1619	upstream
11:66514197-66514349	AluJb	SINE	1905	upstream

Position	Population	BlockLength (kb)	Distance	Location with respect to STR	No. of SNPs	SNPs in the Haploblock
11:66471340-66486143	EUR	14.804	-40952	downstream	10	rs116852454, rs34629385, rs645307, rs55908905, rs529073727, rs77125470, rs615536, rs34775878, rs12805133, rs55170,
11:66477864-66486143	AMR	8.28	-34428	downstream	7	rs55908905, rs529073727, rs77125470, rs615536, rs34775878, rs12805133, rs55170,
11:66480017-66480791	all_pop	0.775	-32275	downstream	2	rs529073727, rs7712547,
11:66481264-66486143	all_pop	4.88	-31028	downstream	3	rs615536, rs12805133, rs55170,
11:66483265-66486143	SAS	2.879	-29027	downstream	2	rs12805133, rs55170,
11:66489778-66493825	EUR	4.048	-22514	downstream	3	rs12788626, rs74959455, rs1079188,
11:66492636-66493825	all_pop	1.19	-19656	downstream	2	rs74959455, rs1079188,
11:66492636-66493825	AMR	1.19	-19656	downstream	2	rs74959455, rs1079188,
11:66498395-66499056	AFR	0.662	-13897	downstream	3	rs114987397, rs77571617, rs7931911,
11:66501455-66518990	AFR	17.536	-10837	downstream	28	rs563447801, rs77017088, rs139271179, rs11827300, rs558290439, rs78748755, rs115681989, rs112060644, rs2510013, rs114568685, rs116414495, rs115861332, rs76064092, rs115469135, rs508443, rs7120487, rs116641296, rs115954939, rs115751278, rs114165617, rs376396584, rs115290875, rs78598565, rs572685407, rs74470944, rs192588878, rs184684269, rs1079189,
11:66501455-66505147	EAS	3.693	-10837	downstream	2	rs563447801, rs5684891,
11:66505147-66509369	all_pop	4.223	-7145	downstream	4	rs56848911, rs2510013, rs57220229, rs50844,
11:66506072-66509369	AMR	3.298	-6220	downstream	2	rs57220229, rs50844,
11:66506072-66509369	EAS	3.298	-6220	downstream	2	rs57220229, rs50844,
11:66506072-66551116	EUR	45.045	-6220	downstream	26	rs57220229, rs508443, rs73505445, rs3782079, rs10791890, rs9633985, rs575723543, rs143110411, rs4930184, rs141149500, rs10791891, rs61088349, rs60395535, rs2187041, rs55662252, rs714766, rs57206977, rs573394951, rs12808743, rs77740323, rs80191637, rs10791892, rs74434170, rs146760811, rs10896135, rs1122759,
11:66506072-66509369	SAS	3.298	-6220	downstream	2	rs57220229, rs50844,
11:66516049-66535424	all_pop	19.376	3757	upstream	14	rs3782079, rs10791890, rs9633985, rs575723543, rs143110411, rs4930184, rs11227587, rs10791891, rs61088349, rs60395535, rs2187041, rs55662252, rs714766, rs5720697,
11:66516049-66551116	AMR	35.068	3757	upstream	21	rs3782079, rs10791890, rs9633985, rs575723543, rs143110411, rs4930184, rs10791891, rs61088349, rs60395535, rs2187041, rs55662252, rs714766, rs57206977, rs573394951, rs12808743, rs77740323, rs80191637, rs10791892, rs74434170, rs10896135, rs1122759,
11:66516049-66535424	EAS	19.376	3757	upstream	18	rs3782079, rs79038941, rs10791890, rs9633985, rs575723543, rs143110411, rs4930184, rs11227587, rs185556329, rs10791891, rs80123667, rs11227591, rs61088349, rs60395535, rs2187041, rs55662252, rs714766, rs5720697,
11:66516049-66535424	SAS	19.376	3757	upstream	13	rs3782079, rs10791890, rs9633985, rs575723543, rs143110411, rs4930184, rs10791891, rs61088349, rs60395535, rs2187041, rs55662252, rs714766, rs5720697,
11:66520877-66522317	AFR	1.441	8585	upstream	2	rs575723543, rs7840711,
11:66522592-66530108	AFR	7.517	10300	upstream	13	rs7951710, rs11227587, rs7927145, rs189721793, rs7938996, rs7939057, rs7925899, rs10791891, rs76640797, rs7933178, rs80123667, rs11227591, rs14596525,
11:66530690-66532970	AFR	2.281	18398	upstream	2	rs61088349, rs6039553,
11:66533469-66533913	AFR	0.445	21177	upstream	3	rs7946173, rs144650681, rs11575360,
11:66534516-66543238	AFR	8.723	22224	upstream	9	rs2187041, rs115334475, rs714766, rs573394951, rs114658444, rs185971503, rs116806931, rs78072235, rs66429,
11:66538035-66552355	EAS	14.321	25743	upstream	12	rs142331442, rs78383830, rs664297, rs59297428, rs77740323, rs80191637, rs10791892, rs74434170, rs10896135, rs11227596, rs6591222, rs11428999,
11:66543238-66551143	all_pop	7.906	30946	upstream	8	rs664297, rs77740323, rs80191637, rs10791892, rs74434170, rs10896135, rs11227596, rs659122,
11:66543972-66547622	AFR	3.651	31680	upstream	6	rs115922720, rs7940057, rs144359948, rs200908182, rs192072109, rs11434597,
11:66548260-66551143	AFR	2.884	35968	upstream	8	rs77740323, rs80191637, rs10791892, rs116792173, rs74434170, rs10896135, rs11227596, rs659122,
11:66548260-66551116	SAS	2.857	35968	upstream	6	rs77740323, rs80191637, rs10791892, rs74434170, rs10896135, rs1122759,
11:66551143-66552427	EUR	1.285	38851	upstream	2	rs6591222, rs53831565,
11:66551143-66552427	SAS	1.285	38851	upstream	2	rs6591222, rs53831565,
11:66551350-66552427	AFR	1.078	39058	upstream	5	rs143459455, rs533943492, rs148006510, rs114289998, rs53831565,
11:66553737-66560724	AFR	6.988	41445	upstream	11	rs7107944, rs539261011, rs539809296, rs74561984, rs11821197, rs75333530, rs75323338, rs4930390, rs55787826, rs151014239, rs14905234,
11:66553737-66560724	EAS	6.988	41445	upstream	6	rs7107944, rs539261011, rs539809296, rs4930390, rs55787826, rs14905234,
11:66554408-66560724	all_pop	6.317	42116	upstream	5	rs539261011, rs539809296, rs4930390, rs55787826, rs14905234,
11:66554408-66560023	AMR	5.616	42116	upstream	3	rs539261011, rs539809296, rs493039,
11:66554408-66560563	EUR	6.156	42116	upstream	4	rs539261011, rs539809296, rs4930390, rs5578782,
11:66555022-66560023	SAS	5.002	42730	upstream	2	rs539809296, rs493039,
11:66560982-66587368	AFR	26.387	48690	upstream	46	rs4576826, rs541629934, rs608248, rs202220496, rs112049281, rs55698327, rs79936254, rs80122403, rs114492184, rs532356026, rs142821083, rs11227600, rs537404516, rs188725528, rs11227601, rs114055882, rs682842, rs115894575, rs569818, rs7121308, rs7105623, rs114839268, rs79283920, rs201125711, rs145027297, rs76632345, rs187792500, rs7131531, rs55920871, rs7104885, rs7104906, rs57604560, rs7931485, rs11828258, rs11825882, rs187546796, rs144281170, rs115331879, rs10750790, rs7930203, rs543191, rs116037818, rs114656103, rs115540240, rs142476477, rs54185121,
11:66560982-66583779	EUR	22.798	48690	upstream	17	rs4576826, rs608248, rs141273249, rs141277529, rs144194860, rs682842, rs35287213, rs78505477, rs569818, rs12792358, rs55920871, rs74788170, rs57604560, rs7931485, rs10750790, rs7930203, rs54319,
11:66560982-66583779	SAS	22.798	48690	upstream	14	rs4576826, rs608248, rs141273249, rs141277529, rs144194860, rs682842, rs78505477, rs569818, rs55920871, rs57604560, rs7931485, rs10750790, rs7930203, rs54319,
11:66562248-66583779	all_pop	21.532	49956	upstream	14	rs608248, rs141273249, rs112049281, rs141277529, rs144194860, rs682842, rs78505477, rs569818, rs55920871, rs57604560, rs7931485, rs10750790, rs7930203, rs54319,
11:66562248-66583779	AMR	21.532	49956	upstream	15	rs608248, rs141273249, rs141277529, rs144194860, rs682842, rs35287213, rs78505477, rs569818, rs55920871, rs139356353, rs57604560, rs7931485, rs10750790, rs7930203, rs54319,
11:66562248-66583779	EAS	21.532	49956	upstream	18	rs608248, rs60622810, rs141273249, rs112049281, rs141277529, rs11227600, rs144194860, rs11227601, rs682842, rs78505477, rs569818, rs55920871, rs57604560, rs7931485, rs78037771, rs10750790, rs7930203, rs54319,

Conservation score was not calculated