rs62653011

Orientation

minus

Stabilized

minus

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

Make rs62653011(C;C)

Make rs62653011(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

68438213

Gene

RPE65

is a	snp
is	mentioned by
dbSNP	rs62653011
dbSNP (classic)	rs62653011
ClinGen	rs62653011
ebi	rs62653011
HLI	rs62653011
Exac	rs62653011
Gnomad	rs62653011
Varsome	rs62653011
LitVar	rs62653011
Map	rs62653011
PheGenI	rs62653011
Biobank	rs62653011
1000 genomes	rs62653011
hgdp	rs62653011
ensembl	rs62653011
geneview	rs62653011
scholar	rs62653011
google	rs62653011
pharmgkb	rs62653011
gwascentral	rs62653011
openSNP	rs62653011
23andMe	rs62653011
SNPshot	rs62653011
SNPdbe	rs62653011
MSV3d	rs62653011
GWAS Ctlg	rs62653011

Max Magnitude

0

ClinVar
Risk	rs62653011(C;C)
Alt	rs62653011(C;C)
Reference	Rs62653011(T;T)
Significance	Pathogenic
Disease	Retinitis pigmentosa 20 Leber congenital amaurosis 2 not provided RPE65-Related Disorders
Variation	info
Gene	RPE65
CLNDBN	Retinitis pigmentosa 20 Leber congenital amaurosis 2 not provided RPE65-Related Disorders
Reversed	1
HGVS	NC_000001.10:g.68903896A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022749.25, RCV000022750.25, RCV000085150.1, RCV000348257.1,