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.
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 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
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
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.810 1.000 2 2011 2015
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
Eosinophil count procedure
CUI: C0200638
Disease: Eosinophil count procedure
1144 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2009 2016
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2012 2019
Beta-2-microglobulin measurement
CUI: C0201910
Disease: Beta-2-microglobulin measurement
7 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 1 2013 2013
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
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
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.710 1.000 2 2015 2016
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.710 1.000 2 2015 2016
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.710 1.000 2 2015 2018
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
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