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rs62637012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62637012(C;C)
Make rs62637012(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position6426684
GeneAIPL1
is asnp
is mentioned by
dbSNPrs62637012
ebirs62637012
HLIrs62637012
Exacrs62637012
Varsomers62637012
Maprs62637012
PheGenIrs62637012
hapmaprs62637012
1000 genomesrs62637012
hgdprs62637012
ensemblrs62637012
gopubmedrs62637012
geneviewrs62637012
scholarrs62637012
googlers62637012
pharmgkbrs62637012
gwascentralrs62637012
openSNPrs62637012
23andMers62637012
23andMe allrs62637012
SNP Nexus

SNPshotrs62637012
SNPdbers62637012
MSV3drs62637012
GWAS Ctlgrs62637012
Max Magnitude0
OMIM604392
Desc
Variant0003
Relatedalso


ClinVar
Risk rs62637012(C;C)
Alt rs62637012(C;C)
Reference rs62637012(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.6330004A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005908.2, RCV000086231.1,