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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
ebirs12449580
HLIrs12449580
Exacrs12449580
Varsomers12449580
Maprs12449580
PheGenIrs12449580
hapmaprs12449580
1000 genomesrs12449580
hgdprs12449580
ensemblrs12449580
gopubmedrs12449580
geneviewrs12449580
scholarrs12449580
googlers12449580
pharmgkbrs12449580
gwascentralrs12449580
openSNPrs12449580
23andMers12449580
23andMe allrs12449580
SNP Nexus

SNPshotrs12449580
SNPdbers12449580
MSV3drs12449580
GWAS Ctlgrs12449580
GMAF0.2245
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene AIPL1
allele G
frequency 0.263
sift AFFECT FUNCTION
HuRef 1103645270912
Disease Association Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4) (MIM:204000, 604393). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.



GET Evidence
AIPL1-D90H
aa_change Asp90His
aa_change_short D90H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.165458
summary



ClinVar
Risk rs12449580(G;G)
Alt rs12449580(G;G)
Reference rs12449580(C;C)
Significance Untested
Disease not provided
Variation info
Gene AIPL1
CLNDBN not provided
Reversed 0
HGVS NC_000017.10:g.6337247C>G
CLNSRC ClinVar Retina International
CLNACC RCV000086217.1,