{{Rsnum
|rsid=10103355
|Gene=ASAH1
|Chromosome=8
|position=18061425
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.1437
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ASAH1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 5.3 | 94.7
| HCB | 3.7 | 23.7 | 72.6
| JPT | 2.7 | 15.9 | 81.4
| YRI | 16.4 | 56.8 | 26.7
| ASW | 22.8 | 43.9 | 33.3
| CHB | 3.7 | 23.7 | 72.6
| CHD | 1.8 | 23.9 | 74.3
| GIH | 0.0 | 5.1 | 94.9
| LWK | 12.1 | 55.1 | 32.7
| MEX | 0.0 | 6.9 | 93.1
| MKK | 13.5 | 45.8 | 40.6
| TSI | 0.0 | 3.9 | 96.1
| HapMapRevision=28
}}{{Venter SNP
|rsid=10103355
|allele=G
|frequency=0.983
|uid=1103652261371
|type=homozygous_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.
}}

{{GET Evidence
|gene=ASAH1
|aa_change=Val262Ala
|aa_change_short=V262A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10103355
|overall_frequency_n=107
|overall_frequency_d=128
|overall_frequency=0.835938
|n_genomes=47
|n_genomes_annotated=0
|n_haplomes=83
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=2
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}