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.
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
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
954 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.950 80 2004 2020
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.980 101 2005 2019
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.972 36 2004 2019
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
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
Vitiligo
CUI: C0042900
Disease: Vitiligo
249 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.860 0.900 10 2005 2018
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
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.800 1.000 3 2012 2019
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
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
Alopecia Areata
CUI: C0002171
Disease: Alopecia Areata
54 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 1.000 5 2006 2019
Myasthenia Gravis
CUI: C0026896
Disease: Myasthenia Gravis
93 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 1.000 5 2008 2015
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
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.730 1.000 4 2008 2018
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.730 1.000 4 2011 2016
Autoimmune thyroiditis
CUI: C0920350
Disease: Autoimmune thyroiditis
76 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.720 1.000 4 2006 2015
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
609 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.710 1.000 2 2016 2017
Latent Autoimmune Diabetes in Adults
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
12 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.710 1.000 2 2018 2019
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
Myositis
CUI: C0027121
Disease: Myositis
43 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 2 2016 2019
White Blood Cell Count procedure
CUI: C0023508
Disease: White Blood Cell Count procedure
1322 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 2 2016 2019
Asthma
CUI: C0004096
Disease: Asthma
1536 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2011 2011
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
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
142 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019