rs104894839(A;G)
From SNPedia
Carrier of a Fabry disease mutation; X-linked so risk is to sons |
Is a | genotype |
of | rs104894839 |
Gene | GLA, RPL36A-HNRNPH2 |
Chromosome | X |
Position | 101,398,508 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 6 | Fabry disease |
(A;G) | 3 | Carrier of a Fabry disease mutation; X-linked so risk is to sons |
(G;G) | 0 | common in clinvar |
Mostly unaffected in absence of a second GLA gene mutation; see text and links via main rs-page