Gene: SH2B3
Alternate names for this Gene: IDDM20|LNK
Gene Summary: This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 12
Location in Chromosome : 12q24.12
Description of this Gene: SH2B adaptor protein 3
Type of Gene: protein-coding
Gene: ATXN2
Alternate names for this Gene: ATX2|SCA2|TNRC13
Gene Summary: This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 12
Location in Chromosome : 12q24.12
Description of this Gene: ataxin 2
Type of Gene: protein-coding
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.
rs739496 in
SH2B3;ATXN2 gene and
Adolescent idiopathic scoliosis
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
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.
rs11065904 in
SH2B3;ATXN2 gene and
Blood urea nitrogen measurement
PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.
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.
rs2238154 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.
rs739496 in
SH2B3;ATXN2 gene and
Hepatitis B
PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.
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.
PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.
PMID 25705162 2014 Genome-wide association study identifies candidate Loci associated with platelet count in koreans.
rs739496 in
SH2B3;ATXN2 gene and
Platelet mean volume determination (procedure)
PMID 22423221 2012 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
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.
rs739496 in
SH2B3;ATXN2 gene and
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to 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.