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rs137852283(C;G)

From SNPedia
Carrier of a Hemophilia B mutation
Is agenotype
ofrs137852283
GeneF9
ChromosomeX
Position139,561,836
mentionedby
Magnitude3.5
ReputeBad
Geno Mag Summary
(C;C) 5.5 Hemophilia B (severity varies)
(C;G) 3.5 Carrier of a Hemophilia B mutation
(G;G) 0 common in clinvar
(G;T) 3.5 Carrier of a Hemophilia B mutation
(T;T) 5.5 Hemophilia B (severity varies)

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