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.
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
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
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
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
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
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
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2018 2018
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2018 2018
High density lipoprotein measurement
CUI: C0392885
Disease: High density lipoprotein measurement
1440 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2018 2018
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2018 2018
Latent Autoimmune Diabetes in Adults
CUI: C1739108
Disease: 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
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2018 2018
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
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.020 0.500 2 2016 2017
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.020 0.500 2 2016 2017
White Blood Cell Count procedure
CUI: C0023508
Disease: White Blood Cell Count procedure
1322 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 2 2016 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
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
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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
1147 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
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
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
Hematocrit procedure
CUI: C0018935
Disease: Hematocrit procedure
216 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016