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.
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
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
609 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
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
Arthritis, Gouty
CUI: C0003868
Disease: Arthritis, Gouty
2356 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2013 2013
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 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
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
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
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
Birth Weight
CUI: C0005612
Disease: Birth Weight
369 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2019 2019
Blood basophil count (lab test)
CUI: C0200641
Disease: Blood basophil count (lab test)
452 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
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
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
2575 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2018 2018
Body Height
CUI: C0005890
Disease: Body Height
3972 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2019 2019
Body mass index
CUI: C1305855
Disease: Body mass index
2689 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 2 2018 2018
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
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
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
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
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2018 2018
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
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