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.
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
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
Drug-Induced Liver Disease
CUI: C0860207
Disease: Drug-Induced Liver Disease
29 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2019 2019
Pemphigus and fogo selvagem
CUI: C0263314
Disease: Pemphigus and fogo selvagem
3 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2019 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
Dermatofibrosis lenticularis disseminata
CUI: C0265514
Disease: Dermatofibrosis lenticularis disseminata
3 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2018 2018
Hodgkin Disease
CUI: C0019829
Disease: Hodgkin Disease
148 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2018 2018
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 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
Congenital Thrombotic Thrombocytopenic Purpura
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
66 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2017 2017
Influenza
CUI: C0021400
Disease: Influenza
17 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1 2017 2017
Purpura, Thrombotic Thrombocytopenic
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
13 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2017 2017
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
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
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
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
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2016 2016
Eosinophil count procedure
CUI: C0200638
Disease: Eosinophil count procedure
1144 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