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.
Early Rheumatoid Arthritis
CUI: C3899278
Disease: Early Rheumatoid Arthritis
5 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2006 2011
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
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
Generalized vitiligo
CUI: C1304470
Disease: Generalized vitiligo
16 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2005 2008
Giant Cell Arteritis
CUI: C0039483
Disease: Giant Cell Arteritis
78 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2013 2015
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
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
Latent autoimmune diabetes mellitus in adult
CUI: C1960272
Disease: Latent autoimmune diabetes mellitus in adult
12 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2008 2019
Lupus Erythematosus
CUI: C0409974
Disease: Lupus Erythematosus
44 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2008 2015
Lupus Erythematosus, Discoid
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
46 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2008 2015
Lupus Vulgaris
CUI: C0024131
Disease: Lupus Vulgaris
44 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2008 2015
Thyroid Diseases
CUI: C0040128
Disease: Thyroid Diseases
26 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2009 2015
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
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
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
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
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
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
CUI: C2717865
Disease: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
3 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2012 2019
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
Autoimmune thyroid disease
CUI: C0178468
Disease: Autoimmune thyroid disease
15 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2005 2010
Bacterial Infections
CUI: C0004623
Disease: Bacterial Infections
17 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2008 2008
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2007 2017
Diabetes, Autoimmune
CUI: C0205734
Disease: Diabetes, Autoimmune
4 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2008 2009
Idiopathic Inflammatory Myopathies
CUI: C0751356
Disease: Idiopathic Inflammatory Myopathies
4 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2008 2017
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