rs527236123

Orientation

minus

Stabilized

minus

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

Make rs527236123(G;T)

Make rs527236123(T;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

216418675

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs527236123
dbSNP (classic)	rs527236123
ClinGen	rs527236123
ebi	rs527236123
HLI	rs527236123
Exac	rs527236123
Gnomad	rs527236123
Varsome	rs527236123
LitVar	rs527236123
Map	rs527236123
PheGenI	rs527236123
Biobank	rs527236123
1000 genomes	rs527236123
hgdp	rs527236123
ensembl	rs527236123
geneview	rs527236123
scholar	rs527236123
google	rs527236123
pharmgkb	rs527236123
gwascentral	rs527236123
openSNP	rs527236123
23andMe	rs527236123
SNPshot	rs527236123
SNPdbe	rs527236123
MSV3d	rs527236123
GWAS Ctlg	rs527236123

Max Magnitude

0

ClinVar
Risk	rs527236123(T;T)
Alt	rs527236123(T;T)
Reference	Rs527236123(G;G)
Significance	Probable-Pathogenic
Disease	Retinitis pigmentosa
Variation	info
Gene	USH2A
CLNDBN	Retinitis pigmentosa
Reversed	1
HGVS	NC_000001.10:g.216592017C>A
CLNSRC	ClinVar
CLNACC	RCV000132713.1,