rs3184504, SH2B3;ATXN2

N. diseases: 92
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.
Antiphospholipid Syndrome
CUI: C0085278
Disease: Antiphospholipid Syndrome
17 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2013 2013
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2018 2018
Eosinophilia
CUI: C0014457
Disease: Eosinophilia
23 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2010 2010
Eosinophilic disorder
CUI: C1306759
Disease: Eosinophilic disorder
22 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2010 2010
leukemia
CUI: C0023418
Disease: leukemia
144 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2015 2015
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2015 2015
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2015 2015
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2010 2010
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2018 2018
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2015 2015
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
29 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
Autoimmune hepatitis
CUI: C4721555
Disease: Autoimmune hepatitis
22 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.020 1.000 2 2014 2017
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.020 0.500 2 2016 2017
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.020 0.500 2 2016 2017
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.020 1.000 2 2015 2019
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
1037 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 10 2009 2019
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
1931 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 5 2009 2018
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
432 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
374 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
370 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
373 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019