rs146249964(A;T)
From SNPedia
Carrier of a congenital amegakaryocytic thrombocytopenia mutation |
Is a | genotype |
of | rs146249964 |
Gene | MPL |
Chromosome | 1 |
Position | 43,337,929 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;T) | 3 | Carrier of a congenital amegakaryocytic thrombocytopenia mutation |
(T;T) | 0 | common in clinvar |
Unaffected in absence of a second MPL gene mutation