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 0.882 0.240 6 32041096 missense variant C/T snv 2.1E-04; 2.7E-05 7.0E-06 0.700 1.000 20 1985 2016
Chronic active hepatitis
CUI: C0520463
Disease: Chronic active hepatitis
34 0.882 0.240 6 32041096 missense variant C/T snv 2.1E-04; 2.7E-05 7.0E-06 0.010 1.000 1 2012 2012
Congenital adrenal hyperplasia
CUI: C0001627
Disease: Congenital adrenal hyperplasia
36 0.882 0.240 6 32041096 missense variant C/T snv 2.1E-04; 2.7E-05 7.0E-06 0.010 1.000 1 2012 2012