rs397514500

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs397514500(A;A)

Make rs397514500(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17531233

Gene

USH1C

is a	snp
is	mentioned by
dbSNP	rs397514500
dbSNP (classic)	rs397514500
ClinGen	rs397514500
ebi	rs397514500
HLI	rs397514500
Exac	rs397514500
Gnomad	rs397514500
Varsome	rs397514500
LitVar	rs397514500
Map	rs397514500
PheGenI	rs397514500
Biobank	rs397514500
1000 genomes	rs397514500
hgdp	rs397514500
ensembl	rs397514500
geneview	rs397514500
scholar	rs397514500
google	rs397514500
pharmgkb	rs397514500
gwascentral	rs397514500
openSNP	rs397514500
23andMe	rs397514500
SNPshot	rs397514500
SNPdbe	rs397514500
MSV3d	rs397514500
GWAS Ctlg	rs397514500

Max Magnitude

0

ClinVar
Risk	rs397514500(A;A) rs397514500(C;C) rs397514500(T;T)
Alt	rs397514500(A;A) rs397514500(C;C) rs397514500(T;T)
Reference	Rs397514500(G;G)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH1C
CLNDBN	Usher syndrome, type 1C
Reversed	1
HGVS	NC_000011.9:g.17552780C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032622.3,