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.
Asthma
CUI: C0004096
Disease: Asthma
1536 0.882 0.280 5 132679856 missense variant G/A snv 6.8E-05 2.8E-05 0.020 1.000 2 2000 2008
Schwartz-Jampel Syndrome
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
12 0.882 0.280 5 132679856 missense variant G/A snv 6.8E-05 2.8E-05 0.010 1.000 1 2008 2008
Toxic Epidermal Necrolysis
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
29 0.882 0.280 5 132679856 missense variant G/A snv 6.8E-05 2.8E-05 0.010 1.000 1 2008 2008