rs397517976

Orientation

minus

Stabilized

minus

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

Make rs397517976(A;A)

Make rs397517976(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215728142

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs397517976
dbSNP (classic)	rs397517976
ClinGen	rs397517976
ebi	rs397517976
HLI	rs397517976
Exac	rs397517976
Gnomad	rs397517976
Varsome	rs397517976
LitVar	rs397517976
Map	rs397517976
PheGenI	rs397517976
Biobank	rs397517976
1000 genomes	rs397517976
hgdp	rs397517976
ensembl	rs397517976
geneview	rs397517976
scholar	rs397517976
google	rs397517976
pharmgkb	rs397517976
gwascentral	rs397517976
openSNP	rs397517976
23andMe	rs397517976
SNPshot	rs397517976
SNPdbe	rs397517976
MSV3d	rs397517976
GWAS Ctlg	rs397517976

Max Magnitude

0

ClinVar
Risk	rs397517976(A;A)
Alt	rs397517976(A;A)
Reference	Rs397517976(G;G)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.215901484C>T
CLNSRC	ClinVar
CLNACC	RCV000041710.2,