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rs61752895

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61752895(C;T)
Make rs61752895(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position68439586
GeneRPE65
is asnp
is mentioned by
dbSNPrs61752895
ebirs61752895
HLIrs61752895
Exacrs61752895
Varsomers61752895
Maprs61752895
PheGenIrs61752895
hapmaprs61752895
1000 genomesrs61752895
hgdprs61752895
ensemblrs61752895
gopubmedrs61752895
geneviewrs61752895
scholarrs61752895
googlers61752895
pharmgkbrs61752895
gwascentralrs61752895
openSNPrs61752895
23andMers61752895
23andMe allrs61752895
SNP Nexus

SNPshotrs61752895
SNPdbers61752895
MSV3drs61752895
GWAS Ctlgrs61752895
Max Magnitude0
ClinVar
Risk rs61752895(T;T)
Alt rs61752895(T;T)
Reference rs61752895(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 2 not provided
Variation info
Gene RPE65
CLNDBN Leber congenital amaurosis 2 not provided
Reversed 1
HGVS NC_000001.10:g.68905269G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013993.17, RCV000085219.1,