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.
Graves Disease
CUI: C0018213
Disease: Graves Disease
352 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.050 1.000 5 2014 2019
Addison's disease due to autoimmunity
CUI: C0271737
Disease: Addison's disease due to autoimmunity
18 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.010 1.000 1 2015 2015
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.010 1.000 1 2015 2015
Autoimmune Primary Adrenal Insufficiency
CUI: C2103602
Disease: Autoimmune Primary Adrenal Insufficiency
18 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.010 1.000 1 2015 2015
Bacterial Infections
CUI: C0004623
Disease: Bacterial Infections
17 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.010 1.000 1 2017 2017
Hyperthyroidism
CUI: C0020550
Disease: Hyperthyroidism
27 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.010 1.000 1 2018 2018