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rs62637015

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62637015(G;T)
Make rs62637015(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position6425710
GeneAIPL1
is asnp
is mentioned by
dbSNPrs62637015
dbSNP (classic)rs62637015
ClinGenrs62637015
ebirs62637015
HLIrs62637015
Exacrs62637015
Gnomadrs62637015
Varsomers62637015
LitVarrs62637015
Maprs62637015
PheGenIrs62637015
Biobankrs62637015
1000 genomesrs62637015
hgdprs62637015
ensemblrs62637015
geneviewrs62637015
scholarrs62637015
googlers62637015
pharmgkbrs62637015
gwascentralrs62637015
openSNPrs62637015
23andMers62637015
SNPshotrs62637015
SNPdbers62637015
MSV3drs62637015
GWAS Ctlgrs62637015
Max Magnitude0
ClinVar
Risk rs62637015(A;A) rs62637015(T;T)
Alt rs62637015(A;A) rs62637015(T;T)
Reference Rs62637015(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 4 not provided not specified Leber congenital amaurosis
Variation info
Gene AIPL1
CLNDBN Leber congenital amaurosis 4 not provided not specified Leber congenital amaurosis
Reversed 1
HGVS NC_000017.10:g.6329030C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000055942.1, RCV000086236.1, RCV000179479.1, RCV000394176.1,