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rs12544854

From SNPedia

Merged intors1071645
Orientationminus
Stabilizedminus
Make rs12544854(A;A)
Make rs12544854(A;G)
Make rs12544854(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position18071302
GeneASAH1
is asnp
is mentioned by
dbSNPrs12544854
ebirs12544854
HLIrs12544854
Exacrs12544854
Varsomers12544854
Maprs12544854
PheGenIrs12544854
hapmaprs12544854
1000 genomesrs12544854
hgdprs12544854
ensemblrs12544854
gopubmedrs12544854
geneviewrs12544854
scholarrs12544854
googlers12544854
pharmgkbrs12544854
gwascentralrs12544854
openSNPrs12544854
23andMers12544854
23andMe allrs12544854
SNP Nexus

SNPshotrs12544854
SNPdbers12544854
MSV3drs12544854
GWAS Ctlgrs12544854
StatusMerged into rs1071645
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ASAH1
allele T
frequency 0.492
sift TOLERATED
HuRef 1103652261428
Disease Association Defects in ASAH1 are the cause of Farber disease (FD) (MIM:228000); also known as Farber lipogranulomatosis. This sphingolipid disease is characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremeties, marked accumulation of ceramide in lysosomes, and death by three years of age.