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.
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
CUI: C3277701
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
1 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 0
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
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
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
Primary Sjögren's syndrome
CUI: C0151449
Disease: Primary Sjögren's syndrome
42 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1 2005 2005
Arthritis, Psoriatic
CUI: C0003872
Disease: Arthritis, Psoriatic
89 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2006 2015
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
Pemphigus Vulgaris
CUI: C0030809
Disease: Pemphigus Vulgaris
39 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2011 2019
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
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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.050 0.600 5 2005 2016
Hashimoto Disease
CUI: C0677607
Disease: Hashimoto Disease
131 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.850 0.667 6 2006 2017
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
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2005 2019
Endometriosis
CUI: C0014175
Disease: Endometriosis
274 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2009 2019
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
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
Tuberculosis, Pulmonary
CUI: C0041327
Disease: Tuberculosis, Pulmonary
171 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.040 0.750 4 2009 2017
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
1147 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.860 0.800 10 2005 2016
Psoriasis
CUI: C0033860
Disease: Psoriasis
705 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 0.800 5 2008 2016
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
92 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.060 0.833 6 2005 2018
Graves Disease
CUI: C0018213
Disease: Graves Disease
352 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.857 14 2005 2019
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
287 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.760 0.857 7 2006 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
2387 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.877 81 2005 2019
Juvenile arthritis
CUI: C3495559
Disease: Juvenile arthritis
128 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.090 0.889 9 2005 2015