rs398123201(C;T)
From SNPedia
Carrier of a Fabry disease mutation; X-linked so risk is to sons |
Is a | genotype |
of | rs398123201 |
Gene | GLA, RPL36A-HNRNPH2, HNRNPH2 |
Chromosome | X |
Position | 101,407,779 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 6 | Fabry disease |
(C;T) | 3 | Carrier of a Fabry disease mutation; X-linked so risk is to sons |
(T;T) | 0 | common in clinvar |
Mostly unaffected in absence of a second GLA gene mutation; see text and links via main rs-page