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.
Fabry Disease
CUI: C0002986
Disease: Fabry Disease
206 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.860 1.000 51 1989 2018
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.700 0
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.020 1.000 2 2010 2016
Dysautonomia, Familial
CUI: C0013364
Disease: Dysautonomia, Familial
46 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2015 2015
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2015 2015
Lysosomal Storage Diseases
CUI: C0085078
Disease: Lysosomal Storage Diseases
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2018 2018
Transient Cerebral Ischemia
CUI: C0917805
Disease: Transient Cerebral Ischemia
9 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2016 2016
Transient Ischemic Attack
CUI: C0007787
Disease: Transient Ischemic Attack
16 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2016 2016