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
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: 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
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
Diastolic blood pressure measurement
CUI: C1305849
Disease: 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
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
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
Systolic blood pressure measurement
CUI: C1306620
Disease: Systolic blood pressure measurement
95 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 2 2009 2013
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
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
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
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
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
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
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2011 2011
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
220 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2011 2011
Immune System Diseases
CUI: C0021053
Disease: Immune System Diseases
116 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2011 2011
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
CUI: C0202117
Disease: 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
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
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
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
555 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 2 2012 2013
Corpuscular Hemoglobin Concentration Mean
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
4389 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2012 2012
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
667 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2012 2012
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