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.
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.030 1.000 3 2013 2015
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.030 1.000 3 2010 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.030 0.333 3 2013 2015
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.030 0.333 3 2013 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
1147 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.020 1.000 2 2008 2013
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.020 1.000 2 2012 2019
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
270 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.020 1.000 2 2012 2019
Immune thrombocytopenic purpura
CUI: C0398650
Disease: Immune thrombocytopenic purpura
35 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.020 0.500 2 2013 2016
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
214 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.020 1.000 2 2012 2019
Anemia
CUI: C0002871
Disease: Anemia
94 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1 2017 2017
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
609 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2017 2017
Autoimmune thrombocytopenia
CUI: C0242584
Disease: Autoimmune thrombocytopenia
7 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2016 2016
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2012 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2015 2015
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2009 2009
Diabetes Mellitus, Insulin-Dependent
954 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2016 2016
Gastrointestinal Neoplasms
CUI: C0017185
Disease: Gastrointestinal Neoplasms
3 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2019 2019
Hepatitis B, Chronic
CUI: C0524909
Disease: Hepatitis B, Chronic
84 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2013 2013
Immune Reconstitution Inflammatory Syndrome
5 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2014 2014
Immune reconstitution inflammatory syndrome [IRIS]
1 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2014 2014
Intervertebral disc disorder
CUI: C0158252
Disease: Intervertebral disc disorder
19 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2016 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2013 2013
Malaria, Falciparum
CUI: C0024535
Disease: Malaria, Falciparum
19 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2017 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2015 2015
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
615 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2010 2010