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rs121917745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917745(C;T)
Make rs121917745(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position68429835
GeneRPE65
is asnp
is mentioned by
dbSNPrs121917745
ebirs121917745
HLIrs121917745
Exacrs121917745
Varsomers121917745
Maprs121917745
PheGenIrs121917745
hapmaprs121917745
1000 genomesrs121917745
hgdprs121917745
ensemblrs121917745
gopubmedrs121917745
geneviewrs121917745
scholarrs121917745
googlers121917745
pharmgkbrs121917745
gwascentralrs121917745
openSNPrs121917745
23andMers121917745
23andMe allrs121917745
SNP Nexus

SNPshotrs121917745
SNPdbers121917745
MSV3drs121917745
GWAS Ctlgrs121917745
Max Magnitude0
OMIM180069
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121917745(T;T)
Alt rs121917745(T;T)
Reference rs121917745(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 20 Leber congenital amaurosis 2 not provided Retinitis pigmentosa
Variation info
Gene RPE65
CLNDBN Retinitis pigmentosa 20 Leber congenital amaurosis 2 not provided Retinitis pigmentosa
Reversed 1
HGVS NC_000001.10:g.68895518G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013999.23, RCV000014000.23, RCV000085176.1, RCV000132583.1,