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.
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
Malignant neoplasm of large intestine
CUI: C0346629
Disease: Malignant neoplasm of large intestine
375 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
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
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
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
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
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
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
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
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
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 with Centrilobular Necrosis
CUI: C1332355
Disease: 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
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
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
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
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
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