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.
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
Juvenile rheumatoid arthritis
CUI: C3714757
Disease: Juvenile rheumatoid arthritis
10 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.050 1.000 5 2005 2015
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
Alopecia
CUI: C0002170
Disease: Alopecia
375 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.040 1.000 4 2006 2019
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
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
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2006 2017
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2006 2017
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
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
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
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
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