STRIDE-DB

No population frequency data found

Flanking region : 5 kb 10 kb 50 kb

Position	HGVS	dbSNP id	Phenotype List	Distance	Clinvar Significance
1:145194054	GRCh38/hg38 1q21.1(chr1:146073716-146244094)x3	NA	See cases	-15270	Benign
1:145194054	GRCh38/hg38 1q21.1(chr1:146073716-146244094)x3	NA	See cases	-15270	Benign
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	NA	See cases	6373	Pathogenic/Likely pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	NA	See cases	6373	Pathogenic
1:145215697	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	NA	See cases	6373	Pathogenic
1:145224606	GRCh37/hg19 1q21.1(chr1:145224606-145735326)x3	NA	See cases	15282	Pathogenic
1:145225122	GRCh37/hg19 1q21.1(chr1:145225122-145770627)x3	NA	not provided	15798	Uncertain significance
1:145232830	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	NA	See cases	23506	Pathogenic
1:145232830	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	NA	See cases	23506	Pathogenic

Chromosome	1:145209324-145209354
Reference length	10
Motif	GGC
Functional region	exonic

Position	Population	BlockLength (kb)	Distance	Location with respect to STR	No. of SNPs	SNPs in the Haploblock
1:145162526-145162527	AFR	0.002	-46798	downstream	2	rs58404843, rs6000923,
1:145185965-145186368	AFR	0.404	-23359	downstream	2	rs374475877, rs244493,
1:145187838-145187899	AFR	0.062	-21486	downstream	2	rs3969648, rs7743441,
1:145188854-145188855	AFR	0.002	-20470	downstream	2	rs115538664, rs248762,
1:145188854-145188855	all_pop	0.002	-20470	downstream	2	rs115538664, rs248762,
1:145188854-145188855	AMR	0.002	-20470	downstream	2	rs115538664, rs248762,
1:145188854-145188855	EAS	0.002	-20470	downstream	2	rs115538664, rs248762,
1:145188854-145188855	EUR	0.002	-20470	downstream	2	rs115538664, rs248762,
1:145188854-145188855	SAS	0.002	-20470	downstream	2	rs115538664, rs248762,
1:145190435-145192189	AFR	1.755	-18889	downstream	5	rs2924832, rs199546839, rs587711489, rs3010126, rs298262,
1:145195645-145195792	EUR	0.148	-13679	downstream	2	rs861335, rs37217516,
1:145197036-145197041	AFR	0.006	-12288	downstream	2	rs142617464, rs14255615,
1:145197036-145197041	all_pop	0.006	-12288	downstream	2	rs142617464, rs14255615,
1:145197036-145197041	AMR	0.006	-12288	downstream	2	rs142617464, rs14255615,
1:145197036-145197041	EAS	0.006	-12288	downstream	2	rs142617464, rs14255615,
1:145197036-145197041	EUR	0.006	-12288	downstream	2	rs142617464, rs14255615,
1:145197036-145197041	SAS	0.006	-12288	downstream	2	rs142617464, rs14255615,
1:145202138-145204541	SAS	2.404	-7186	downstream	2	rs587761976, rs58776443,
1:145209612-145209870	EAS	0.259	288	upstream	3	rs587749761, rs80228373, rs7644067,
1:145209869-145209870	AFR	0.002	545	upstream	2	rs80228373, rs7644067,
1:145209869-145209870	all_pop	0.002	545	upstream	2	rs80228373, rs7644067,
1:145209869-145209870	AMR	0.002	545	upstream	2	rs80228373, rs7644067,
1:145209869-145209870	EUR	0.002	545	upstream	2	rs80228373, rs7644067,
1:145209869-145211323	SAS	1.455	545	upstream	3	rs80228373, rs76440671, esv358741,
1:145211323-145215206	EAS	3.884	1999	upstream	5	esv3587412, rs367761938, rs201305025, rs141567600, rs11187102,
1:145211323-145215206	EUR	3.884	1999	upstream	5	esv3587412, rs367761938, rs201305025, rs141567600, rs11187102,
1:145211976-145214099	AMR	2.124	2652	upstream	3	rs367761938, rs201305025, rs14156760,
1:145211976-145214043	SAS	2.068	2652	upstream	2	rs367761938, rs20130502,
1:145214043-145215206	all_pop	1.164	4719	upstream	3	rs201305025, rs141567600, rs11187102,
1:145214099-145215206	AFR	1.108	4775	upstream	2	rs141567600, rs11187102,
1:145214099-145215206	SAS	1.108	4775	upstream	2	rs141567600, rs11187102,
1:145218707-145220306	all_pop	1.6	9383	upstream	2	rs368777680, rs15085562,
1:145231553-145232958	AFR	1.406	22229	upstream	2	rs142041832, rs2855152,
1:145231553-145232958	all_pop	1.406	22229	upstream	2	rs142041832, rs2855152,
1:145231553-145232958	AMR	1.406	22229	upstream	2	rs142041832, rs2855152,
1:145231553-145232958	EAS	1.406	22229	upstream	2	rs142041832, rs2855152,
1:145231553-145232958	EUR	1.406	22229	upstream	2	rs142041832, rs2855152,
1:145231553-145232958	SAS	1.406	22229	upstream	2	rs142041832, rs2855152,
1:145250349-145251715	EUR	1.367	41025	upstream	2	rs142553870, rs6181574,
1:145251715-145253776	EAS	2.062	42391	upstream	2	rs61815741, rs20062322,
1:145251715-145253776	SAS	2.062	42391	upstream	2	rs61815741, rs20062322,

No population frequency data found

No Alu found near the repeat

Conservation score was not calculated