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.
Hawkinsinuria
CUI: C2931042
Disease: Hawkinsinuria
5 0.925 0.120 12 121857775 stop gained C/G;T snv 5.2E-05 1.4E-05 0.700 0
Tyrosinemia, Type III
CUI: C0268623
Disease: Tyrosinemia, Type III
6 0.925 0.120 12 121857775 stop gained C/G;T snv 5.2E-05 1.4E-05 0.700 0