rs9378251, CYP21A2

N. diseases: 8
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 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.730 1.000 9 1991 2013
Chronic active hepatitis
CUI: C0520463
Disease: Chronic active hepatitis
34 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.050 1.000 5 2000 2019
Deficiency of steroid 21-monooxygenase
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
26 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.050 1.000 5 1991 2008
21-hydroxylase deficiency
CUI: C0852654
Disease: 21-hydroxylase deficiency
28 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.040 1.000 4 2005 2019
Congenital adrenal hyperplasia
CUI: C0001627
Disease: Congenital adrenal hyperplasia
36 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.020 1.000 2 2003 2019
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.010 1.000 1 2004 2004
Nevus comedonicus
CUI: C0265987
Disease: Nevus comedonicus
6 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.010 1.000 1 2019 2019
Precocious pubarche
CUI: C0342541
Disease: Precocious pubarche
11 0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04 0.010 1.000 1 2004 2004