rs398124619

Orientation

minus

Stabilized

minus

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

Make rs398124619(G;T)

Make rs398124619(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215970720

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs398124619
dbSNP (classic)	rs398124619
ClinGen	rs398124619
ebi	rs398124619
HLI	rs398124619
Exac	rs398124619
Gnomad	rs398124619
Varsome	rs398124619
LitVar	rs398124619
Map	rs398124619
PheGenI	rs398124619
Biobank	rs398124619
1000 genomes	rs398124619
hgdp	rs398124619
ensembl	rs398124619
geneview	rs398124619
scholar	rs398124619
google	rs398124619
pharmgkb	rs398124619
gwascentral	rs398124619
openSNP	rs398124619
23andMe	rs398124619
SNPshot	rs398124619
SNPdbe	rs398124619
MSV3d	rs398124619
GWAS Ctlg	rs398124619

Max Magnitude

0

ClinVar
Risk	rs398124619(T;T)
Alt	rs398124619(T;T)
Reference	Rs398124619(G;G)
Significance	Pathogenic
Disease	not provided Usher syndrome
Variation	info
Gene	USH2A
CLNDBN	not provided Usher syndrome, type 2A
Reversed	1
HGVS	NC_000001.10:g.216144062C>A
CLNSRC	HGMD
CLNACC	RCV000082830.4, RCV000325446.1,