rs6475, CYP21A2

N. diseases: 7
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 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.720 1.000 9 1988 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.700 1.000 9 1998 2015
Chronic active hepatitis
CUI: C0520463
Disease: Chronic active hepatitis
34 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.100 0.938 16 2000 2019
21-hydroxylase deficiency
CUI: C0852654
Disease: 21-hydroxylase deficiency
28 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.050 1.000 5 2005 2019
Deficiency of steroid 21-monooxygenase
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
26 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.050 1.000 5 1990 2019
Congenital adrenal hyperplasia
CUI: C0001627
Disease: Congenital adrenal hyperplasia
36 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.030 1.000 3 1991 2019
Nevus comedonicus
CUI: C0265987
Disease: Nevus comedonicus
6 0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03 0.010 1.000 1 2017 2017