Rs10103355
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs10103355 |
| hapmap | rs10103355 |
| hgdp | rs10103355 |
| ensembl | rs10103355 |
| gopubmed | rs10103355 |
| scholar | rs10103355 |
| rs10103355 | |
| pharmgkb | rs10103355 |
| hgvbaseg2p | rs10103355 |
| medrefsnp | rs10103355 |
| 23andMe | rs10103355 |
| SNP Nexus |
| Gene | ASAH1 |
| Chromosome | 8 |
| Orientation | plus |
| Position | 17963213 |
| Genotype | Effect |
|---|---|
| rs10103355(A;A)* | ? |
| rs10103355(A;G)* | ? |
| rs10103355(G;G) |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs10103355(G;G) | 00 |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | ASAH1 |
| allele | G |
| frequency | 0.983 |
| sift | TOLERATED |
| HuRef | 1103652261371 |
| 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. |
| ? | (A;A) (A;G) (G;G) |
|---|---|
|
| |
