rs7755898, 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 32040421 stop gained C/T snv 3.6E-03 0.740 1.000 7 1988 2013
21-hydroxylase deficiency
CUI: C0852654
Disease: 21-hydroxylase deficiency
28 0.827 0.240 6 32040421 stop gained C/T snv 3.6E-03 0.040 1.000 4 2004 2019
Chronic active hepatitis
CUI: C0520463
Disease: Chronic active hepatitis
34 0.827 0.240 6 32040421 stop gained C/T snv 3.6E-03 0.030 1.000 3 2004 2017
Deficiency of steroid 21-monooxygenase
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
26 0.827 0.240 6 32040421 stop gained C/T snv 3.6E-03 0.030 1.000 3 2004 2011
Congenital adrenal hyperplasia
CUI: C0001627
Disease: Congenital adrenal hyperplasia
36 0.827 0.240 6 32040421 stop gained C/T snv 3.6E-03 0.020 1.000 2 2009 2017