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rs12449580

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs12449580(C;G)
Make rs12449580(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position6433927
GeneAIPL1
is asnp
is mentioned by
dbSNPrs12449580
dbSNP (classic)rs12449580
ClinGenrs12449580
ebirs12449580
HLIrs12449580
Exacrs12449580
Gnomadrs12449580
Varsomers12449580
LitVarrs12449580
Maprs12449580
PheGenIrs12449580
Biobankrs12449580
1000 genomesrs12449580
hgdprs12449580
ensemblrs12449580
geneviewrs12449580
scholarrs12449580
googlers12449580
pharmgkbrs12449580
gwascentralrs12449580
openSNPrs12449580
23andMers12449580
23andMe allrs12449580
SNPshotrs12449580
SNPdbers12449580
MSV3drs12449580
GWAS Ctlgrs12449580
GMAF0.2245
Max Magnitude0
? (C;C) (C;G) (G;G) 28





ClinVar
Risk rs12449580(G;G) rs12449580(T;T)
Alt rs12449580(G;G) rs12449580(T;T)
Reference Rs12449580(C;C)
Significance Probable-non-pathogenic
Disease not provided not specified Leber congenital amaurosis Retinitis Pigmentosa Retinitis Pigmentosa
Variation info
Gene AIPL1
CLNDBN not provided not specified Leber congenital amaurosis Retinitis Pigmentosa, Dominant Retinitis Pigmentosa, Recessive
Reversed 0
HGVS NC_000017.10:g.6337247C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000086217.1, RCV000242515.1, RCV000294049.1, RCV000350965.1, RCV000385931.1,