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rs137852229(A;C)

From SNPedia
Carrier of a Hemophilia B mutation
Is agenotype
ofrs137852229
GeneF9
ChromosomeX
Position139,537,158
mentionedby
Magnitude3.5
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3.5 Carrier of a Hemophilia B mutation
(C;C) 5.5 Hemophilia B (severity varies)

X-linked recessive, so carrier females are generally unaffected in the absence of a second F9 gene mutation, however some may experience abnormal bleeding.