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.
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
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
109 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
109 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
109 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
Blood basophil count (lab test)
CUI: C0200641
Disease: Blood basophil count (lab test)
452 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
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
Cholangitis, Sclerosing
CUI: C0008313
Disease: Cholangitis, Sclerosing
276 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
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
Eosinophil count procedure
CUI: C0200638
Disease: Eosinophil count procedure
1144 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
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
Granulocyte count
CUI: C0857490
Disease: Granulocyte count
150 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
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
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
59 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2008 2008
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2008 2008