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rs104894138(C;T)

From SNPedia
(Redirected from I5001492(A;G))
Carrier of a complete combined 17-alpha-hydroxylase/17,20-lyase deficiency mutation
Is agenotype
ofrs104894138
GeneCYP17A1
Chromosome10
Position102,837,076
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a complete combined 17-alpha-hydroxylase/17,20-lyase deficiency mutation
(T;T) 6.6 Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency

Unaffected in absence of a second mutation in the CYP17A1 gene