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 11-Beta-hydroxylase deficiency
CUI: C0268292
Disease: Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
75 0.851 0.240 8 142876278 missense variant G/A snv 7.0E-06 0.810 1.000 3 2005 2016
11-Beta-hydroxylase deficiency
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
16 0.851 0.240 8 142876278 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
Chronic active hepatitis
CUI: C0520463
Disease: Chronic active hepatitis
34 0.851 0.240 8 142876278 missense variant G/A snv 7.0E-06 0.010 1.000 1 2005 2005
Deficiency of monooxygenase
CUI: C1291314
Disease: Deficiency of monooxygenase
15 0.851 0.240 8 142876278 missense variant G/A snv 7.0E-06 0.010 1.000 1 2005 2005