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.
Hereditary Factor XI Deficiency
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
119 1.000 0.080 4 186286490 stop gained G/A;C snv 3.2E-05 0.700 1.000 4 2000 2014
Bleeding tendency
CUI: C1458140
Disease: Bleeding tendency
14 1.000 0.080 4 186286490 stop gained G/A;C snv 3.2E-05 0.700 1.000 1 2019 2019