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.
Autoimmune Hepatitis with Centrilobular Necrosis
3 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2014 2014
Carrier status
CUI: C0449439
Disease: Carrier status
6 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2018 2018
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
Latent Autoimmune Diabetes in Adults
12 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2018 2018
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
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
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
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
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
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
Endometrial Neoplasms
CUI: C0014170
Disease: Endometrial Neoplasms
32 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2015 2015
Endometrioid carcinoma ovary
CUI: C0346163
Disease: Endometrioid carcinoma ovary
35 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 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
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
Primary sclerosing cholangitis
CUI: C0566602
Disease: Primary sclerosing cholangitis
58 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2013 2013
Ovarian Serous Adenocarcinoma
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
65 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
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
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2013 2013
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
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
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
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
Fibrinogen assay
CUI: C0337428
Disease: Fibrinogen assay
143 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2017 2017
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
Granulocyte count
CUI: C0857490
Disease: Granulocyte count
150 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016