rs28942074(A;G)
From SNPedia
Carrier of a Wilson disease mutation |
Is a | genotype |
of | rs28942074 |
Gene | ATP7B |
Chromosome | 13 |
Position | 51,958,333 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a Wilson disease mutation |
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of a Wilson's disease mutation |
(T;T) | 5.7 | Wilson's disease; variable age of onset |
Unaffected in absence of a second ATP7B gene mutation; see links via main rs-page