rs6445, TNXB;CYP21A2

N. diseases: 5
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 0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03 0.710 1.000 1 1997 1997
Chronic active hepatitis
CUI: C0520463
Disease: Chronic active hepatitis
34 0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03 0.030 1.000 3 2000 2003
Deficiency of steroid 21-monooxygenase
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
26 0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03 0.030 1.000 3 1992 1997
21-hydroxylase deficiency
CUI: C0852654
Disease: 21-hydroxylase deficiency
28 0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03 0.010 1.000 1 1997 1997
Congenital adrenal hyperplasia
CUI: C0001627
Disease: Congenital adrenal hyperplasia
36 0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03 0.010 1.000 1 2002 2002