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.
Achalasia
CUI: C1321756
Disease: Achalasia
5 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
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
Allergic asthma
CUI: C0155877
Disease: Allergic asthma
55 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
Alopecia universalis
CUI: C0263505
Disease: Alopecia universalis
2 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2014 2014
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
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
Arthritis
CUI: C0003864
Disease: Arthritis
69 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2019 2019
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
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
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 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
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
Chagas Disease
CUI: C0041234
Disease: Chagas Disease
10 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
Chronic urticaria
CUI: C0263338
Disease: Chronic urticaria
2 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2012 2012
Coffin-Siris syndrome
CUI: C0265338
Disease: Coffin-Siris syndrome
6 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2012 2012
Congenital Thrombotic Thrombocytopenic Purpura
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
66 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2017 2017
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2016 2016
Dermatofibrosis lenticularis disseminata
CUI: C0265514
Disease: Dermatofibrosis lenticularis disseminata
3 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2018 2018
Diabetic Ketoacidosis
CUI: C0011880
Disease: Diabetic Ketoacidosis
3 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2011 2011
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
Eosinophilic granulomatosis with polyangiitis
CUI: C0008728
Disease: Eosinophilic granulomatosis with polyangiitis
3 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2012 2012
Esophageal Achalasia
CUI: C0014848
Disease: Esophageal Achalasia
5 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2006 2006
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
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007