Variant: rs3184504 

    present in Gene: SH2B3;ATXN2
    present in Chromosome: 12
    Position on Chromosome: 111446804
    Alleles of this Variant: T/A;C;G

rs3184504 in SH2B3;ATXN2 gene and Adenocarcinoma of large intestine PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

rs3184504 in SH2B3;ATXN2 gene and Adenocarcinoma of lung (disorder) PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3184504 in SH2B3;ATXN2 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs3184504 in SH2B3;ATXN2 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs3184504 in SH2B3;ATXN2 gene and Autoantibody measurement PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

PMID 29310926 2018 Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort.

rs3184504 in SH2B3;ATXN2 gene and Autoimmune Chronic Hepatitis PMID 24768677 2014 Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.

rs3184504 in SH2B3;ATXN2 gene and Autoimmune Diseases PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

rs3184504 in SH2B3;ATXN2 gene and Autoimmune Hepatitis with Centrilobular Necrosis PMID 24768677 2014 Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.

rs3184504 in SH2B3;ATXN2 gene and Beta-2-microglobulin measurement PMID 23417110 2013 The other locus of B2M was on chromosome 12 (rs3184504 at SH2B3, beta = 0.02, p value = 3.1 × 10(-8)), which was previously implicated as an eGFR locus.

rs3184504 in SH2B3;ATXN2 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs3184504 in SH2B3;ATXN2 gene and Blood Pressure PMID 21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

rs3184504 in SH2B3;ATXN2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs3184504 in SH2B3;ATXN2 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3184504 in SH2B3;ATXN2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3184504 in SH2B3;ATXN2 gene and Body mass index PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

rs3184504 in SH2B3;ATXN2 gene and Breast Carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3184504 in SH2B3;ATXN2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3184504 in SH2B3;ATXN2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3184504 in SH2B3;ATXN2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

rs3184504 in SH2B3;ATXN2 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3184504 in SH2B3;ATXN2 gene and Carcinoma of lung PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3184504 in SH2B3;ATXN2 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3184504 in SH2B3;ATXN2 gene and Carrier status PMID 29310926 2018 Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort.

rs3184504 in SH2B3;ATXN2 gene and Celiac Disease PMID 22057235 2011 Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

rs3184504 in SH2B3;ATXN2 gene and Cerebrovascular accident PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs3184504 in SH2B3;ATXN2 gene and Cholangitis, Sclerosing PMID 23603763 2013 Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

PMID 27992413 2017 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs3184504 in SH2B3;ATXN2 gene and Colorectal Carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 26621817 2015 A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

rs3184504 in SH2B3;ATXN2 gene and Colorectal Neoplasms PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

rs3184504 in SH2B3;ATXN2 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

rs3184504 in SH2B3;ATXN2 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

rs3184504 in SH2B3;ATXN2 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs3184504 in SH2B3;ATXN2 gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs3184504 in SH2B3;ATXN2 gene and Diabetes Mellitus, Insulin-Dependent PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

PMID 21980299 2011 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

PMID 29310926 2018 Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort.

PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

rs3184504 in SH2B3;ATXN2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30254083 2018 First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.

rs3184504 in SH2B3;ATXN2 gene and Diastolic blood pressure PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

PMID 19430479 2009 Genome-wide association study of blood pressure and hypertension.

PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

PMID 26390057 2015 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs3184504 in SH2B3;ATXN2 gene and Diastolic blood pressure measurement PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 19430479 2009 Genome-wide association study of blood pressure and hypertension.

PMID 21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

rs3184504 in SH2B3;ATXN2 gene and Endometrial Carcinoma PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.

rs3184504 in SH2B3;ATXN2 gene and Endometrial Neoplasms PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

rs3184504 in SH2B3;ATXN2 gene and Endometrioid carcinoma ovary PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3184504 in SH2B3;ATXN2 gene and Eosinophil count procedure PMID 19198610 2009 Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3184504 in SH2B3;ATXN2 gene and Fibrinogen assay PMID 28107422 2017 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

rs3184504 in SH2B3;ATXN2 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs3184504 in SH2B3;ATXN2 gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3184504 in SH2B3;ATXN2 gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3184504 in SH2B3;ATXN2 gene and Hemoglobin measurement PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3184504 in SH2B3;ATXN2 gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs3184504 in SH2B3;ATXN2 gene and Hypothyroidism PMID 22493691 2012 Novel associations for hypothyroidism include known autoimmune risk loci.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3184504 in SH2B3;ATXN2 gene and Immune System Diseases PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

rs3184504 in SH2B3;ATXN2 gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs3184504 in SH2B3;ATXN2 gene and Ischemic stroke PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs3184504 in SH2B3;ATXN2 gene and Latent Autoimmune Diabetes in Adults PMID 30254083 2018 First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.

rs3184504 in SH2B3;ATXN2 gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs3184504 in SH2B3;ATXN2 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3184504 in SH2B3;ATXN2 gene and Malignant neoplasm of large intestine PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3184504 in SH2B3;ATXN2 gene and Malignant tumor of colon PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 26621817 2015 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

rs3184504 in SH2B3;ATXN2 gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3184504 in SH2B3;ATXN2 gene and Ovarian Serous Adenocarcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3184504 in SH2B3;ATXN2 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 24026423 2014 A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

rs3184504 in SH2B3;ATXN2 gene and Primary biliary cirrhosis PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

rs3184504 in SH2B3;ATXN2 gene and Primary sclerosing cholangitis PMID 23603763 2013 Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

rs3184504 in SH2B3;ATXN2 gene and Prostate carcinoma PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3184504 in SH2B3;ATXN2 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs3184504 in SH2B3;ATXN2 gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3184504 in SH2B3;ATXN2 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3184504 in SH2B3;ATXN2 gene and Serum LDL cholesterol measurement PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3184504 in SH2B3;ATXN2 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs3184504 in SH2B3;ATXN2 gene and Squamous cell carcinoma of lung PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs3184504 in SH2B3;ATXN2 gene and Systolic Pressure PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

PMID 19430479 2009 Genome-wide association study of blood pressure and hypertension.

PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs3184504 in SH2B3;ATXN2 gene and Systolic blood pressure measurement PMID 19430479 2009 Genome-wide association study of blood pressure and hypertension.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs3184504 in SH2B3;ATXN2 gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs3184504 in SH2B3;ATXN2 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs3184504 in SH2B3;ATXN2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3184504 in SH2B3;ATXN2 gene and ovarian neoplasm PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.