Source: GWASCAT ×
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.
Myositis
CUI: C0027121
Disease: Myositis
39 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 2 2016 2019
White Blood Cell Count procedure
CUI: C0023508
Disease: White Blood Cell Count procedure
1003 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 2 2016 2019
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
130 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
130 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
130 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
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
109 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
Blood basophil count (lab test)
CUI: C0200641
Disease: Blood basophil count (lab test)
452 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
Cholangitis, Sclerosing
CUI: C0008313
Disease: Cholangitis, Sclerosing
276 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
Eosinophil count procedure
CUI: C0200638
Disease: Eosinophil count procedure
1133 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
Granulocyte count
CUI: C0857490
Disease: Granulocyte count
150 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
Hodgkin Disease
CUI: C0019829
Disease: Hodgkin Disease
41 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2018 2018
Lymphocyte Count measurement
CUI: C0200635
Disease: Lymphocyte Count measurement
199 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
Neutrophil count (procedure)
CUI: C0200633
Disease: Neutrophil count (procedure)
234 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
345 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.710 1.000 1 2016 2017
Latent Autoimmune Diabetes in Adults
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
6 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.710 1.000 1 2018 2019
Polymyositis
CUI: C0085655
Disease: Polymyositis
2 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.710 1.000 1 2008 2016
Autoimmune thyroiditis
CUI: C0920350
Disease: Autoimmune thyroiditis
66 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.720 1.000 2 2006 2015
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
844 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.730 1.000 1 2008 2018
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
464 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.730 1.000 1 2011 2016
Alopecia Areata
CUI: C0002171
Disease: Alopecia Areata
29 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 1.000 1 2006 2019
Psoriasis
CUI: C0033860
Disease: Psoriasis
485 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 0.800 1 2008 2016
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
98 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.760 0.857 1 2006 2019
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
185 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.800 1.000 2 2012 2019