rs267606757, CYP21A2

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
62 0.882 0.200 6 32039162 missense variant A/C snv 0.710 1.000 1 2008 2008
21-hydroxylase deficiency
CUI: C0852654
Disease: 21-hydroxylase deficiency
28 0.882 0.200 6 32039162 missense variant A/C snv 0.010 1.000 1 2008 2008
Deficiency of steroid 21-monooxygenase
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
26 0.882 0.200 6 32039162 missense variant A/C snv 0.010 1.000 1 2008 2008