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.
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
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
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
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
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
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
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
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
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
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
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 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
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
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
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
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
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
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