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.
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
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
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
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
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
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
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
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
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
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
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
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
Takayasu Arteritis
CUI: C0039263
Disease: Takayasu Arteritis
55 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2008 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
Arthritis
CUI: C0003864
Disease: Arthritis
69 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2019 2019
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
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
132 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
141 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
109 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
109 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019