rs5030858(C;T)
From SNPedia
Carrier of a phenylketonuria mutation |
Is a | genotype |
of | rs5030858 |
Gene | PAH |
Chromosome | 12 |
Position | 102,840,493 |
Merged from | Rs28934898 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a phenylketonuria mutation |
(T;T) | 6 | Phenylketonuria |
Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.