rs72552754, CYP21A2

N. diseases: 2
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 0.925 0.200 6 32040485 missense variant G/A snv 4.0E-06 0.700 1.000 20 1985 2016
Deficiency of steroid 21-monooxygenase
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
26 0.925 0.200 6 32040485 missense variant G/A snv 4.0E-06 0.010 1.000 1 1992 1992