rs35859650(A;G)
From SNPedia
Carrier of a possible muscle AMP deaminase deficiency mutation |
Is a | genotype |
of | rs35859650 |
Gene | AMPD1 |
Chromosome | 1 |
Position | 114,677,972 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a possible muscle AMP deaminase deficiency mutation |
(G;G) | 0 | common in clinvar |
Unaffected in absence of a second AMPD1 gene mutation, even if this is really a disease-causing mutation.