rs28940580(A;G)
From SNPedia
Carrier of a familial mediterranean fever mutation |
Is a | genotype |
of | rs28940580 |
Gene | MEFV |
Chromosome | 16 |
Position | 3,243,447 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 3.5 | familial Mediterranean fever |
(A;C) | 3.5 | familial Mediterranean fever |
(A;G) | 3 | Carrier of a familial mediterranean fever mutation |
(C;C) | 1.5 | can be ignored for now |
(C;G) | 5 | Familial mediterranean fever (predicted) |
(G;G) | 0 | common in clinvar |
Familial Mediterranean Fever mutation carrier; unaffected unless a second MEFV gene mutation is present.