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rs142326926

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142326926(C;T)
Make rs142326926(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position6426615
GeneAIPL1
is asnp
is mentioned by
dbSNPrs142326926
ebirs142326926
HLIrs142326926
Exacrs142326926
Varsomers142326926
Maprs142326926
PheGenIrs142326926
hapmaprs142326926
1000 genomesrs142326926
hgdprs142326926
ensemblrs142326926
gopubmedrs142326926
geneviewrs142326926
scholarrs142326926
googlers142326926
pharmgkbrs142326926
gwascentralrs142326926
openSNPrs142326926
23andMers142326926
23andMe allrs142326926
SNP Nexus

SNPshotrs142326926
SNPdbers142326926
MSV3drs142326926
GWAS Ctlgrs142326926
Max Magnitude0
ClinVar
Risk rs142326926(T;T)
Alt rs142326926(T;T)
Reference rs142326926(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 4 not provided
Variation info
Gene AIPL1
CLNDBN Leber congenital amaurosis 4 not provided
Reversed 0
HGVS NC_000017.10:g.6329935C>T
CLNSRC ClinVar GeneReviews Retina International
CLNACC RCV000055941.1, RCV000086234.1,