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rs62637014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62637014(A;A)
Make rs62637014(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position6425781
GeneAIPL1
is asnp
is mentioned by
dbSNPrs62637014
ebirs62637014
HLIrs62637014
Exacrs62637014
Varsomers62637014
Maprs62637014
PheGenIrs62637014
hapmaprs62637014
1000 genomesrs62637014
hgdprs62637014
ensemblrs62637014
gopubmedrs62637014
geneviewrs62637014
scholarrs62637014
googlers62637014
pharmgkbrs62637014
gwascentralrs62637014
openSNPrs62637014
23andMers62637014
23andMe allrs62637014
SNP Nexus

SNPshotrs62637014
SNPdbers62637014
MSV3drs62637014
GWAS Ctlgrs62637014
GMAF0.0
Max Magnitude0
OMIM604392
Desc
Variant0001
Relatedalso
[PMID 22412862OA-icon.png] Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy
ClinVar
Risk rs62637014(A;A)
Alt rs62637014(A;A)
Reference rs62637014(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.6329101C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005906.4, RCV000086235.1,