rs397517994

Orientation

minus

Stabilized

minus

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

Make rs397517994(C;T)

Make rs397517994(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215640615

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs397517994
dbSNP (classic)	rs397517994
ClinGen	rs397517994
ebi	rs397517994
HLI	rs397517994
Exac	rs397517994
Gnomad	rs397517994
Varsome	rs397517994
LitVar	rs397517994
Map	rs397517994
PheGenI	rs397517994
Biobank	rs397517994
1000 genomes	rs397517994
hgdp	rs397517994
ensembl	rs397517994
geneview	rs397517994
scholar	rs397517994
google	rs397517994
pharmgkb	rs397517994
gwascentral	rs397517994
openSNP	rs397517994
23andMe	rs397517994
SNPshot	rs397517994
SNPdbe	rs397517994
MSV3d	rs397517994
GWAS Ctlg	rs397517994

Max Magnitude

0

ClinVar
Risk	rs397517994(T;T)
Alt	rs397517994(T;T)
Reference	Rs397517994(C;C)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.215813957G>A
CLNSRC	ClinVar
CLNACC	RCV000041772.2,