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rs61752904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61752904(A;T)
Make rs61752904(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position68439033
GeneRPE65
is asnp
is mentioned by
dbSNPrs61752904
ebirs61752904
HLIrs61752904
Exacrs61752904
Varsomers61752904
Maprs61752904
PheGenIrs61752904
hapmaprs61752904
1000 genomesrs61752904
hgdprs61752904
ensemblrs61752904
gopubmedrs61752904
geneviewrs61752904
scholarrs61752904
googlers61752904
pharmgkbrs61752904
gwascentralrs61752904
openSNPrs61752904
23andMers61752904
23andMe allrs61752904
SNP Nexus

SNPshotrs61752904
SNPdbers61752904
MSV3drs61752904
GWAS Ctlgrs61752904
Max Magnitude0
ClinVar
Risk rs61752904(T;T)
Alt rs61752904(T;T)
Reference rs61752904(A;A)
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.68904716T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022753.17, RCV000085231.1,