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.
Autoantibody measurement
CUI: C1272321
Disease: Autoantibody measurement
52 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2011 2011
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
Immune thrombocytopenic purpura
CUI: C0398650
Disease: Immune thrombocytopenic purpura
35 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1 2011 2011
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2011 2011
Refractory anemias
CUI: C0002893
Disease: Refractory anemias
11 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2011 2011
Autoimmune thyroid disease (AITD)
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
54 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2009 2012
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 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
Immune System Diseases
CUI: C0021053
Disease: Immune System Diseases
116 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.800 1.000 2 2011 2012
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
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
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
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
Microscopic Polyarteritis
CUI: C2347126
Disease: Microscopic Polyarteritis
7 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2012 2012
Myasthenias
CUI: C0947912
Disease: Myasthenias
3 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1 2012 2012
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
328 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2005 2013
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
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
Superficial ulcer
CUI: C0333307
Disease: Superficial ulcer
10 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2013 2013
Encephalitis, St. Louis
CUI: C0014060
Disease: Encephalitis, St. Louis
34 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2004 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
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
Ketosis
CUI: C0022638
Disease: Ketosis
11 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2014 2014
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