rs3184504, SH2B3;ATXN2

N. diseases: 92
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
0.700 GeneticVariation GWASCAT Genome-wide association study of colorectal cancer identifies six new susceptibility loci. 26151821 2015
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
Antiphospholipid Syndrome
CUI: C0085278
Disease: Antiphospholipid Syndrome
0.010 GeneticVariation BEFREE Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs3184504) and two SNPs in ATXN2 gene (rs10774625 and rs653178) exhibited the strongest association with thrombotic antiphospholipid syndrome (p-value = 5,9 × 10(-4) OR 95% CI 1.84 (1.32-2.55)). 23844121 2013
Arthritis, Gouty
CUI: C0003868
Disease: Arthritis, Gouty
0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
Autoantibody measurement
CUI: C1272321
Disease: Autoantibody measurement
0.800 GeneticVariation GWASCAT Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort. 29310926 2018
Autoantibody measurement
CUI: C1272321
Disease: Autoantibody measurement
0.800 GeneticVariation GWASDB Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393 2011
Autoimmune Chronic Hepatitis
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
0.720 GeneticVariation GWASCAT Genome-wide association study identifies variants associated with autoimmune hepatitis type 1. 24768677 2014
Autoimmune Chronic Hepatitis
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
0.720 GeneticVariation BEFREE We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)). 24768677 2014
Autoimmune Chronic Hepatitis
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
0.720 GeneticVariation BEFREE Genome-wide association analyses in Caucasians have linked a missense mutation at rs3184504 in SH2B3 with AIH. 28703133 2017
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
Autoimmune hepatitis
CUI: C4721555
Disease: Autoimmune hepatitis
0.020 GeneticVariation BEFREE We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)). 24768677 2014
Autoimmune hepatitis
CUI: C4721555
Disease: Autoimmune hepatitis
0.020 GeneticVariation BEFREE Genome-wide association analyses in Caucasians have linked a missense mutation at rs3184504 in SH2B3 with AIH. 28703133 2017
Autoimmune Hepatitis with Centrilobular Necrosis
0.700 GeneticVariation GWASCAT Genome-wide association study identifies variants associated with autoimmune hepatitis type 1. 24768677 2014
Beta-2-microglobulin measurement
CUI: C0201910
Disease: Beta-2-microglobulin measurement
0.800 GeneticVariation GWASDB 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. 23417110 2013
Beta-2-microglobulin measurement
CUI: C0201910
Disease: Beta-2-microglobulin measurement
0.800 GeneticVariation GWASCAT 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. 23417110 2013
Birth Weight
CUI: C0005612
Disease: Birth Weight
0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
Blood basophil count (lab test)
CUI: C0200641
Disease: Blood basophil count (lab test)
0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
0.700 GeneticVariation GWASDB Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
Body Height
CUI: C0005890
Disease: Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Body mass index
CUI: C1305855
Disease: Body mass index
0.700 GeneticVariation GWASCAT Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 29273807 2018