{{Rsnum
|rsid = 12544854
|Status = Merged
|Merged = 1071645
|Gene = ASAH1
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=8
|position=18071302
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ASAH1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 23.9 | 46.9 | 29.2
| HCB | 15.6 | 43.0 | 41.5
| JPT | 12.8 | 46.8 | 40.4
| YRI | 4.2 | 36.8 | 59.0
| ASW | 12.3 | 36.8 | 50.9
| CHB | 15.6 | 43.0 | 41.5
| CHD | 12.0 | 47.2 | 40.7
| GIH | 32.3 | 48.5 | 19.2
| LWK | 9.3 | 43.5 | 47.2
| MEX | 51.7 | 37.9 | 10.3
| MKK | 7.2 | 49.7 | 43.1
| TSI | 28.3 | 45.5 | 26.3
| HapMapRevision=28
}}{{Venter SNP
|rsid=12544854
|allele=T
|frequency=0.492
|uid=1103652261428
|type=heterozygous_SNP
|hugo=ASAH1
|ensembl gene=ENSG00000104763
|ensembl transcript=ENST00000262097
|sift=TOLERATED
|disease=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.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}