rs527236126

Orientation

minus

Stabilized

minus

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

Make rs527236126(C;T)

Make rs527236126(T;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

215650692

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs527236126
dbSNP (classic)	rs527236126
ClinGen	rs527236126
ebi	rs527236126
HLI	rs527236126
Exac	rs527236126
Gnomad	rs527236126
Varsome	rs527236126
LitVar	rs527236126
Map	rs527236126
PheGenI	rs527236126
Biobank	rs527236126
1000 genomes	rs527236126
hgdp	rs527236126
ensembl	rs527236126
geneview	rs527236126
scholar	rs527236126
google	rs527236126
pharmgkb	rs527236126
gwascentral	rs527236126
openSNP	rs527236126
23andMe	rs527236126
SNPshot	rs527236126
SNPdbe	rs527236126
MSV3d	rs527236126
GWAS Ctlg	rs527236126

Max Magnitude

0

ClinVar
Risk	rs527236126(T;T)
Alt	rs527236126(T;T)
Reference	Rs527236126(C;C)
Significance	Probable-Pathogenic
Disease	Retinitis pigmentosa Leber congenital amaurosis
Variation	info
Gene	USH2A
CLNDBN	Retinitis pigmentosa Leber congenital amaurosis
Reversed	1
HGVS	NC_000001.10:g.215824034G>A
CLNSRC	ClinVar
CLNACC	RCV000132706.1, RCV000144482.1,