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.
leukemia
CUI: C0023418
Disease: leukemia
144 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
Lymphocyte Count measurement
CUI: C0200635
Disease: Lymphocyte Count measurement
456 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
Neutrophil count (procedure)
CUI: C0200633
Disease: Neutrophil count (procedure)
234 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
Ovarian Serous Adenocarcinoma
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
65 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
29 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
Psoriasis
CUI: C0033860
Disease: Psoriasis
705 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
Reticulocyte count (procedure)
CUI: C0206161
Disease: Reticulocyte count (procedure)
474 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
283 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
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