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rs61751276

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61751276(A;A)
Make rs61751276(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position68449890
GeneRPE65
is asnp
is mentioned by
dbSNPrs61751276
dbSNP (classic)rs61751276
ClinGenrs61751276
ebirs61751276
HLIrs61751276
Exacrs61751276
Gnomadrs61751276
Varsomers61751276
LitVarrs61751276
Maprs61751276
PheGenIrs61751276
Biobankrs61751276
1000 genomesrs61751276
hgdprs61751276
ensemblrs61751276
geneviewrs61751276
scholarrs61751276
googlers61751276
pharmgkbrs61751276
gwascentralrs61751276
openSNPrs61751276
23andMers61751276
SNPshotrs61751276
SNPdbers61751276
MSV3drs61751276
GWAS Ctlgrs61751276
Max Magnitude0
ClinVar
Risk rs61751276(A;A)
Alt rs61751276(A;A)
Reference Rs61751276(G;G)
Significance Pathogenic
Disease not provided Leber congenital amaurosis 2
Variation info
Gene RPE65
CLNDBN not provided Leber congenital amaurosis 2
Reversed 1
HGVS NC_000001.10:g.68915573C>T
CLNSRC
CLNACC RCV000085149.1, RCV000314474.1,