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.
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
62 0.925 0.080 6 26091475 stop gained G/C;T snv 4.5E-04 0.710 1.000 2 2000 2002
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
45 0.925 0.080 6 26091475 stop gained G/C;T snv 4.5E-04 0.010 1.000 1 2002 2002