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.
Addison Disease
CUI: C0001403
Disease: Addison Disease
13 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2005 2012
Purpura, Thrombotic Thrombocytopenic
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
13 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2017 2017
Autoimmune thyroid disease
CUI: C0178468
Disease: Autoimmune thyroid disease
15 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2005 2010
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
CUI: C4050407
Disease: Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
15 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2011 2012
Generalized vitiligo
CUI: C1304470
Disease: Generalized vitiligo
16 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2005 2008
Bacterial Infections
CUI: C0004623
Disease: Bacterial Infections
17 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2008 2008
Influenza
CUI: C0021400
Disease: Influenza
17 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1 2017 2017
Granulomatosis with polyangiitis
CUI: C3495801
Disease: Granulomatosis with polyangiitis
18 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2011 2012
Addison's disease due to autoimmunity
CUI: C0271737
Disease: Addison's disease due to autoimmunity
18 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2009 2009
Autoimmune Primary Adrenal Insufficiency
CUI: C2103602
Disease: Autoimmune Primary Adrenal Insufficiency
18 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2009 2009
Anterior uveitis
CUI: C0042165
Disease: Anterior uveitis
20 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2013 2013
Thymoma
CUI: C0040100
Disease: Thymoma
20 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2014 2014
Turner Syndrome
CUI: C0041408
Disease: Turner Syndrome
21 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2010 2020
Polymyositis
CUI: C0085655
Disease: Polymyositis
22 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.710 1.000 2 2008 2016
Autoimmune hepatitis
CUI: C4721555
Disease: Autoimmune hepatitis
22 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2017 2017
Autoimmune Chronic Hepatitis
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
23 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2017 2017
Vasculitis
CUI: C0042384
Disease: Vasculitis
24 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2008 2012
Generalized Anxiety Disorder
CUI: C0270549
Disease: Generalized Anxiety Disorder
24 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2008 2008
Immunoglobulin A deficiency (disorder)
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
25 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2006 2006
Thyroid Diseases
CUI: C0040128
Disease: Thyroid Diseases
26 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2009 2015
Drug-Induced Liver Disease
CUI: C0860207
Disease: Drug-Induced Liver Disease
29 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2019 2019
Acute anterior uveitis
CUI: C0701807
Disease: Acute anterior uveitis
30 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2012 2013
Brucellosis
CUI: C0006309
Disease: Brucellosis
30 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2009 2009
SVEINSSON CHORIORETINAL ATROPHY
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
30 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2014 2014
Rheumatic Heart Disease
CUI: C0035439
Disease: Rheumatic Heart Disease
33 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2011 2014