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.
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
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
954 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.950 80 2004 2020
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
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
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
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
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
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
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
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
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
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
2672 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.730 1.000 4 2008 2018
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
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 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
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