rs397517981

Orientation

minus

Stabilized

minus

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

Make rs397517981(G;G)

Make rs397517981(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215675197

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs397517981
dbSNP (classic)	rs397517981
ClinGen	rs397517981
ebi	rs397517981
HLI	rs397517981
Exac	rs397517981
Gnomad	rs397517981
Varsome	rs397517981
LitVar	rs397517981
Map	rs397517981
PheGenI	rs397517981
Biobank	rs397517981
1000 genomes	rs397517981
hgdp	rs397517981
ensembl	rs397517981
geneview	rs397517981
scholar	rs397517981
google	rs397517981
pharmgkb	rs397517981
gwascentral	rs397517981
openSNP	rs397517981
23andMe	rs397517981
SNPshot	rs397517981
SNPdbe	rs397517981
MSV3d	rs397517981
GWAS Ctlg	rs397517981

Max Magnitude

0

ClinVar
Risk	rs397517981(G;G)
Alt	rs397517981(G;G)
Reference	Rs397517981(T;T)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.215848539A>C
CLNSRC	ClinVar
CLNACC	RCV000041728.2,