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rs62637010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62637010(C;C)
Make rs62637010(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position6426934
GeneAIPL1
is asnp
is mentioned by
dbSNPrs62637010
ebirs62637010
HLIrs62637010
Exacrs62637010
Varsomers62637010
Maprs62637010
PheGenIrs62637010
hapmaprs62637010
1000 genomesrs62637010
hgdprs62637010
ensemblrs62637010
gopubmedrs62637010
geneviewrs62637010
scholarrs62637010
googlers62637010
pharmgkbrs62637010
gwascentralrs62637010
openSNPrs62637010
23andMers62637010
23andMe allrs62637010
SNP Nexus

SNPshotrs62637010
SNPdbers62637010
MSV3drs62637010
GWAS Ctlgrs62637010
Max Magnitude0
ClinVar
Risk rs62637010(C;C)
Alt rs62637010(C;C)
Reference rs62637010(G;G)
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.6330254C>G
CLNSRC ClinVar GeneReviews Retina International
CLNACC RCV000055939.1, RCV000086228.1,