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rs62637016

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(I;I) 0
Make rs62637016(-;-)
Make rs62637016(-;AG)
ReferenceGRCh38 38.1/141
Chromosome17
Position6425604
GeneAIPL1
is asnp
is mentioned by
dbSNPrs62637016
ebirs62637016
HLIrs62637016
Exacrs62637016
Varsomers62637016
Maprs62637016
PheGenIrs62637016
hapmaprs62637016
1000 genomesrs62637016
hgdprs62637016
ensemblrs62637016
gopubmedrs62637016
geneviewrs62637016
scholarrs62637016
googlers62637016
pharmgkbrs62637016
gwascentralrs62637016
openSNPrs62637016
23andMers62637016
23andMe allrs62637016
SNP Nexus

SNPshotrs62637016
SNPdbers62637016
MSV3drs62637016
GWAS Ctlgrs62637016
Max Magnitude0
ClinVar
Risk rs62637016(;)
Alt rs62637016(;)
Reference rs62637016(AG;AG)
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.6328924_6328925delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005907.2, RCV000086209.1,