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rs121917744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917744(A;A)
Make rs121917744(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position68438228
GeneRPE65
is asnp
is mentioned by
dbSNPrs121917744
ebirs121917744
HLIrs121917744
Exacrs121917744
Varsomers121917744
Maprs121917744
PheGenIrs121917744
hapmaprs121917744
1000 genomesrs121917744
hgdprs121917744
ensemblrs121917744
gopubmedrs121917744
geneviewrs121917744
scholarrs121917744
googlers121917744
pharmgkbrs121917744
gwascentralrs121917744
openSNPrs121917744
23andMers121917744
23andMe allrs121917744
SNP Nexus

SNPshotrs121917744
SNPdbers121917744
MSV3drs121917744
GWAS Ctlgrs121917744
Max Magnitude0
OMIM180069
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121917744(A,T;A,T)
Alt rs121917744(A,T;A,T)
Reference rs121917744(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 20
Variation info
Gene RPE65
CLNDBN Retinitis pigmentosa 20
Reversed 1
HGVS NC_000001.10:g.68903911G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013996.23,