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.
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
17 0.925 0.200 2 48688067 missense variant G/A snv 0.810 1.000 12 1993 2006
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
77 0.925 0.200 2 48688067 missense variant G/A snv 0.010 1.000 1 2008 2008