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rs62637011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62637011(A;A)
Make rs62637011(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position6426906
GeneAIPL1
is asnp
is mentioned by
dbSNPrs62637011
dbSNP (classic)rs62637011
ClinGenrs62637011
ebirs62637011
HLIrs62637011
Exacrs62637011
Gnomadrs62637011
Varsomers62637011
LitVarrs62637011
Maprs62637011
PheGenIrs62637011
Biobankrs62637011
1000 genomesrs62637011
hgdprs62637011
ensemblrs62637011
geneviewrs62637011
scholarrs62637011
googlers62637011
pharmgkbrs62637011
gwascentralrs62637011
openSNPrs62637011
23andMers62637011
SNPshotrs62637011
SNPdbers62637011
MSV3drs62637011
GWAS Ctlgrs62637011
Max Magnitude0
ClinVar
Risk rs62637011(A;A)
Alt rs62637011(A;A)
Reference Rs62637011(T;T)
Significance Pathogenic
Disease Leber congenital amaurosis 4 not provided
Variation info
Gene AIPL1
CLNDBN Leber congenital amaurosis 4 not provided
Reversed 1
HGVS NC_000017.10:g.6330226A>T
CLNSRC ClinVar GeneReviews Retina International
CLNACC RCV000055940.1, RCV000086229.1,