rs33985472(A;G)
From SNPedia
Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
Is a | genotype |
of | rs33985472 |
Gene | HBB |
Chromosome | 11 |
Position | 5,225,485 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
(G;G) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
Unaffected in absence of a second HBB gene mutation; see discussion at HBB