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 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.700 1.000 18 1996 2008
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.020 1.000 2 2002 2012
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.010 1.000 1 2011 2011
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.010 1.000 1 2011 2011
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.010 1.000 1 2011 2011