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.
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
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
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
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
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
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
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
Gout
CUI: C0018099
Disease: Gout
2354 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2013 2013
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
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
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
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
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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2015 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2015 2015
Malignant neoplasm of colon and/or rectum
502 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2015 2015
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2015 2015
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2015 2015