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.
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
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
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
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
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 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
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
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
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
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
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
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
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
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
141 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
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
Autoimmune hepatitis
CUI: C4721555
Disease: Autoimmune hepatitis
22 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2017 2017
Autoimmune Primary Adrenal Insufficiency
18 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2009 2009
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