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 Angioedema Type III
CUI: C1857728
Disease: Hereditary Angioedema Type III
3 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.830 1.000 3 2009 2018
Angioedemas, Hereditary
CUI: C0019243
Disease: Angioedemas, Hereditary
7 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.750 1.000 10 2006 2020
Angioedema
CUI: C0002994
Disease: Angioedema
8 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.700 0
Factor XII Deficiency
CUI: C0015526
Disease: Factor XII Deficiency
13 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.700 0
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.700 0
Increased bilirubin level (finding)
CUI: C0311468
Disease: Increased bilirubin level (finding)
8 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.700 0
Urticaria
CUI: C0042109
Disease: Urticaria
11 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.700 0