rs5030851(C;G)
From SNPedia
Carrier of a phenylketonuria mutation |
Is a | genotype |
of | rs5030851 |
Gene | PAH |
Chromosome | 12 |
Position | 102,852,815 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 3 | Carrier of a phenylketonuria mutation |
(C;T) | 3 | Carrier of a phenylketonuria mutation |
(T;T) | 6 | Phenyketonuria |
Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.