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.
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
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 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 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
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.730 1.000 6 2015 2019
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
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
374 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
370 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
373 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
368 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
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
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
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.710 1.000 2 2015 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.020 1.000 2 2015 2019
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