rs397518039

Orientation

minus

Stabilized

minus

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

Make rs397518039(A;G)

Make rs397518039(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215877882

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs397518039
dbSNP (classic)	rs397518039
ClinGen	rs397518039
ebi	rs397518039
HLI	rs397518039
Exac	rs397518039
Gnomad	rs397518039
Varsome	rs397518039
LitVar	rs397518039
Map	rs397518039
PheGenI	rs397518039
Biobank	rs397518039
1000 genomes	rs397518039
hgdp	rs397518039
ensembl	rs397518039
geneview	rs397518039
scholar	rs397518039
google	rs397518039
pharmgkb	rs397518039
gwascentral	rs397518039
openSNP	rs397518039
23andMe	rs397518039
SNPshot	rs397518039
SNPdbe	rs397518039
MSV3d	rs397518039
GWAS Ctlg	rs397518039

Max Magnitude

0

ClinVar
Risk	rs397518039(G;G)
Alt	rs397518039(G;G)
Reference	Rs397518039(A;A)
Significance	Pathogenic
Disease	Usher syndrome Retinitis pigmentosa
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A Retinitis pigmentosa
Reversed	1
HGVS	NC_000001.10:g.216051224T>C
CLNSRC	ClinVar
CLNACC	RCV000041930.3, RCV000132715.1,