rs397517964

Orientation

minus

Stabilized

minus

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

Make rs397517964(-;-)

Make rs397517964(-;AA)

Reference

GRCh38 38.1/141

Chromosome

1

Position

215786866

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs397517964
dbSNP (classic)	rs397517964
ClinGen	rs397517964
ebi	rs397517964
HLI	rs397517964
Exac	rs397517964
Gnomad	rs397517964
Varsome	rs397517964
LitVar	rs397517964
Map	rs397517964
PheGenI	rs397517964
Biobank	rs397517964
1000 genomes	rs397517964
hgdp	rs397517964
ensembl	rs397517964
geneview	rs397517964
scholar	rs397517964
google	rs397517964
pharmgkb	rs397517964
gwascentral	rs397517964
openSNP	rs397517964
23andMe	rs397517964
SNPshot	rs397517964
SNPdbe	rs397517964
MSV3d	rs397517964
GWAS Ctlg	rs397517964

Max Magnitude

0

ClinVar
Risk	rs397517964(-;-)
Alt	rs397517964(-;-)
Reference	Rs397517964(AA;AA)
Significance	Pathogenic
Disease	Usher syndrome Retinitis pigmentosa 39
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A Retinitis pigmentosa 39
Reversed	1
HGVS	NC_000001.10:g.215960208_215960209delTT
CLNSRC	ClinVar
CLNACC	RCV000041664.3, RCV000276776.1,