rs5030861(G;T)
From SNPedia
Carrier of a phenylketonuria mutation |
Is a | genotype |
of | rs5030861 |
Gene | PAH |
Chromosome | 12 |
Position | 102,840,399 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 6 | Phenylketonuria |
(A;G) | 3 | Carrier of a phenylketonuria mutation |
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of a phenylketonuria mutation |
Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.