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rs33985472(A;G)

From SNPedia
Beta Thalassemia carrier; Hemoglobin beta-plus mutation
Is agenotype
ofrs33985472
GeneHBB
Chromosome11
Position5,225,485
mentionedby
Magnitude3
ReputeBad
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