rs367543046(-;AAA)
From SNPedia
| Carrier of a fumarase deficiency mutation |
| Is a | genotype |
| of | rs367543046 |
| Gene | FH |
| Chromosome | 1 |
| Position | 241,497,927 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;AAA) | 3 | Carrier of a fumarase deficiency mutation |
| (AAA;AAA) | 8.8 | Fumarase deficiency (predicted) |
Unaffected in absence of another mutation in the FH gene; see links via rs367543046 page including sidebars.
