rs75193786(C;T)
From SNPedia
Carrier of a phenylketonuria mutation |
Is a | genotype |
of | rs75193786 |
Gene | PAH |
Chromosome | 12 |
Position | 102,894,893 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;T) | 3 | Carrier of a phenylketonuria mutation |
(C;C) | 6 | Phenyketonuria |
(C;T) | 3 | Carrier of a phenylketonuria mutation |
(T;T) | 0 | common in clinvar |
Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.