Have questions? Visit https://www.reddit.com/r/SNPedia

rs62653011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62653011(C;C)
Make rs62653011(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position68438213
GeneRPE65
is asnp
is mentioned by
dbSNPrs62653011
ebirs62653011
HLIrs62653011
Exacrs62653011
Varsomers62653011
Maprs62653011
PheGenIrs62653011
hapmaprs62653011
1000 genomesrs62653011
hgdprs62653011
ensemblrs62653011
gopubmedrs62653011
geneviewrs62653011
scholarrs62653011
googlers62653011
pharmgkbrs62653011
gwascentralrs62653011
openSNPrs62653011
23andMers62653011
23andMe allrs62653011
SNP Nexus

SNPshotrs62653011
SNPdbers62653011
MSV3drs62653011
GWAS Ctlgrs62653011
Max Magnitude0
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
Variation info
Gene RPE65
CLNDBN Retinitis pigmentosa 20 Leber congenital amaurosis 2 not provided
Reversed 1
HGVS NC_000001.10:g.68903896A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022749.24, RCV000022750.24, RCV000085150.1,