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.
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.730 1.000 6 2015 2019
Diabetes Mellitus, Insulin-Dependent
954 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.820 1.000 6 2009 2018
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.810 1.000 5 2013 2018
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
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
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
373 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, 3
368 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.820 1.000 4 2011 2018
Malignant neoplasm of large intestine
375 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.720 1.000 3 2019 2019
Cholangitis, Sclerosing
CUI: C0008313
Disease: Cholangitis, Sclerosing
276 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 3 2013 2017
Diastolic blood pressure measurement
81 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 3 2009 2013
Hemoglobin measurement
CUI: C0518015
Disease: Hemoglobin measurement
224 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 3 2012 2017
Low density lipoprotein cholesterol measurement
1142 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2012 2018
Platelet Count measurement
CUI: C0032181
Disease: Platelet Count measurement
457 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2011 2016
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
1599 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2009 2019
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2012 2018
Autoantibody measurement
CUI: C1272321
Disease: Autoantibody measurement
52 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2011 2018
Autoimmune Chronic Hepatitis
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
23 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.720 1.000 2 2014 2017
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