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.
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
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
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
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
667 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2006 2017
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
Achalasia
CUI: C1321756
Disease: Achalasia
5 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
Addison's disease due to autoimmunity
CUI: C0271737
Disease: Addison's disease due to autoimmunity
18 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2009 2009
Allergic asthma
CUI: C0155877
Disease: Allergic asthma
55 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
Alopecia universalis
CUI: C0263505
Disease: Alopecia universalis
2 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2014 2014
Anterior uveitis
CUI: C0042165
Disease: Anterior uveitis
20 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2013 2013
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
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
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
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
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 Chronic Hepatitis
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
23 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2017 2017
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