{{Rsnum
|rsid=3184504
|Gene=SH2B3
|Chromosome=12
|position=111446804
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.2181
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SH2B3
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 33.0 | 45.5 | 21.4
| HCB | 99.3 | 0.7 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 80.4 | 17.9 | 1.8
| CHB | 99.3 | 0.7 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 78.2 | 19.8 | 2.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 58.9 | 37.5 | 3.6
| MKK | 98.0 | 2.0 | 0.0
| TSI | 18.6 | 57.8 | 23.5
| HapMapRevision=28
}}[[rs3184504]] is a nonsynonymous SNP in the [[SH2B3]] gene, and it is also known as R262W.

In a recent (2008) study of non-HLA SNP associations of 1600+ [[celiac disease]] patients, this SNP was considered one of the most significant. The odds ratio for the minor allele was 1.19 (CI:1.10-1.30, p=1.33x10e-7). [[rs653178]], another SNP in strong linkage disequilibrium (r<sup>2</sup>>0.99) with [[rs3184504]], was also associated with [[celiac disease]].{{PMID|18311140|OA=1
}}

{{PMID|17554260|OA=1
}} associated with [[type-1 diabetes]]

[http://blog.23andme.com/2009/02/09/snpwatch-five-new-studies-identify-genetic-variations-associated-with-coronary-artery-disease-and-heart-attack/ 23andMe blog] [[coronary artery disease]] and [[heart attack]]

SNP 	Risk Version 	Effect 
*[[rs646776]] 	T 	1.19 	
*[[rs17465637]] 	C 	1.14 
*[[rs1746048]] 	C 	1.17 	
*[[rs6725887]] 	C 	1.17 	
*[[rs11206510]] 	T 	1.15 	
*[[rs3184504]] 	T 	1.13 
*[[rs2306374]] 	C 	1.15 
*[[rs3782886]] 	C 	1.44

[http://blog.23andme.com/2009/05/12/snpwatch-researchers-find-more-genetic-variations-associated-with-blood-pressure/ 23andMe blog] [[blood pressure]]

{{PMID Auto GWAS
  |PMID=24262325
  |Trait=Coronary artery disease
  |Title=Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
  |RiskAllele=T
  |Pval=9E-7
  |OR=1.07
  |ORtxt=[1.04-1.11]
  }}
{{PMID Auto GWAS
  |PMID=24026423
  |Trait=Platelet counts
  |Title=A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
  |RiskAllele=T
  |Pval=5E-11
  |OR=5.33
  |ORtxt=[NR] unit decrease  
  }}
{{PMID Auto GWAS
  |PMID=23417110
  |Trait=Beta-2 microglubulin plasma levels
  |Title=Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.
  |RiskAllele=C
  |Pval=3E-8
  |OR=0.02
  |ORtxt=[0.012-0.028] unit decrease
  |OA=1
  }}
{{PMID Auto GWAS
  |PMID=23222517
  |Trait=Red blood cell traits
  |Title=Seventy-five genetic loci influencing the human red blood cell.
  |RiskAllele=T
  |Pval=4E-19 (EA, Hgb)
  |OR=0.051
  |ORtxt=[0.039-0.063] unit increase
  |OA=1
  }}
{{PMID Auto GWAS
  |PMID=2249369
  |Trait=Hypothyroidism
  |Title=Novel associations for hypothyroidism include known autoimmune risk loci.
  |RiskAllele=T
  |Pval=3E-12
  |OR=1.2
  |ORtxt=[1.14-1.27]
  |OA=1
  }}
{{PMID Auto GWAS
  |PMID=22139419
  |Trait=Platelet counts
  |Title=New gene functions in megakaryopoiesis and platelet formation.
  |RiskAllele=T
  |Pval=1E-26
  |OR=3.99
  |ORtxt=[3.26-4.72] 10^9/l increase
  |OA=1
}}
{{PMID Auto GWAS
|PMID=21909115
|Trait=Diastolic blood pressure
|Title=Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
|RiskAllele=T
|Pval=4E-25
|OR=0.4480
|ORtxt=[NR] mmHg increase
|OA=1
}}
{{PMID Auto GWAS
|PMID=21829393
|Trait=Diabetes autoantibodies
|Title=Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
|RiskAllele=T
|Pval=2E-38
|OR=1.3000
|ORtxt=[NR]
|OA=1
}}
{{PMID Auto GWAS
|PMID=21378990
|Trait=Coronary heart disease
|Title=Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
|RiskAllele=T
|Pval=0.000006
|OR=1.0700
|ORtxt=[1.04-1.10]
|OA=1
}}
{{PMID Auto GWAS
  |PMID=21829393
  |Trait=Type 1 diabetes autoantibodies
  |Title=Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
  |RiskAllele=T
  |Pval=2E-38 (T1D)
  |OR=1.3
  |ORtxt=[NR]
  }}
{{PMID Auto GWAS
  |PMID=21378990
  |Trait=Coronary heart disease
  |Title=Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
  |RiskAllele=T
  |Pval=6E-6
  |OR=1.07
  |ORtxt=[1.04-1.10]
  }}
{{PMID Auto GWAS
  |PMID=20453842
  |Trait=Rheumatoid arthritis
  |Title=Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
  |RiskAllele=T
  |Pval=6E-6
  |OR=1.08
  |ORtxt=[NR] 
  }}
{{PMID Auto GWAS
  |PMID=19430480
  |Trait=Type 1 diabetes
  |Title=Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
  |RiskAllele=T
  |Pval=3E-27
  |OR=
  |ORtxt=NR
  |OA=1
  }}
{{PMID Auto GWAS
  |PMID=19430479
  |Trait=Diastolic blood pressure 
  |Title=Genome-wide association study of blood pressure and hypertension.
  |RiskAllele=T
  |Pval=3E-14
  |OR=0.48
  |ORtxt=[0.36-0.60] mm Hg increase
  |OA=1
  }}
{{PMID Auto GWAS
  |PMID=19430479
  |Trait=Systolic blood pressure 
  |Title=Genome-wide association study of blood pressure and hypertension.
  |RiskAllele=T
  |Pval=5E-9
  |OR=0.48
  |ORtxt=[0.38-0.78] mm Hg increase
  |OA=1
  }}
}}
{{PMID Auto GWAS
  |PMID=19198610
  |Trait=Eosinophil counts
  |Title=Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
  |RiskAllele=T
  |Pval=7E-19 (European)
  |OR=7.6
  |ORtxt=[5.9-9.3] % standard unit increase
  }}
{{PMID Auto
|PMID=25009551
|Title=The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study
{{PMID Auto
|PMID=23844121
|Title=Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus
|OA=1
}}
{{PMID Auto
|PMID=23328882
|Title=Meta-analyses of four eosinophil related gene variants in coronary heart disease.
}}
{{PMID|22525200}} Pharmacogenetic implications for eight common blood pressure-associated single-nucleotide polymorphisms.
}}
{{PMID Auto
|PMID=22493691
|Title=Novel associations for hypothyroidism include known autoimmune risk Loci.
|OA=1
}}
{{PMID Auto
|PMID=22328738
|Title=Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.
|OA=1
}}
{{PMID Auto
|PMID=22087237
|Title=Improving the estimation of celiac disease sibling risk by non-HLA genes
|OA=1
}}
{{PMID|21253569|OA=1
}} Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?

{{PMID|21193429|OA=1
}} Determinants of platelet count in humans.
{{PMID Auto
|PMID=20560212
|Title=Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection
|OA=1
}}
{{PMID|20546165}} The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients.
}}
{{PMID Auto
|PMID=20508602
|Title=The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis
}}
{{PMID|20045101|OA=1
}} Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.
{{PMID|19956433|OA=1
}} Genetics of coronary artery disease: focus on genome-wide association studies.
{{PMID Auto
|PMID=19951419
|Title=Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
|OA=1
}}
{{PMID Auto
|PMID=19693089
|Title=Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort
}}
{{PMID|19913121|OA=1
}} Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

{{PMID|19862010|OA=1
}} Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

{{PMID|19860791}} Genetic evidence for a role of IL33 in nasal polyposis.

{{PMID|19307593|OA=1
}} Signals of recent positive selection in a worldwide sample of human populations.

{{PMID|19168599|OA=1
}} Type 1 diabetes in the BB rat: a polygenic disease.

{{PMID|19073967|OA=1
}} Shared and distinct genetic variants in type 1 diabetes and celiac disease.

{{PMID|18987646|OA=1
}} The expanding genetic overlap between multiple sclerosis and type I diabetes.

{{PMID|18978792|OA=1
}} Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

{{PMID|18713140|OA=1
}} Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.

{{PMID|18556337|OA=1
}} Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).

{{PMID|18252225|OA=1
}} On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.

{{PharmGKB
|RSID=rs3184504
|Name_s=
|Gene_s=SH2B3
|Feature=
|Evidence=PubMed ID:19198610; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. (Initial Sample Size: 9,392 individuals; Replication Sample Size: 12,118 individuals); (Region: 12q24.12; Reported Gene(s): SH2B3; Risk Allele: rs3184504-T); (p-value= 7E-19).This variant is associated with Plasma eosinophil count.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739962
}}
{{PharmGKB
|RSID=rs3184504
|Name_s=SH2B3: 784T>C; W262R
|Gene_s=SH2B3
|Feature=
|Evidence=PubMed ID:19198610
|Annotation=The nonsynonymous SNP at 12q24, in SH2B3 gene, was significantly associated (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls).
|Drugs=
|Drug Classes=
|Diseases=Myocardial Infarction
|Curation Level=Curated
|PharmGKB Accession ID=PA163522161
}}
{{omim
|id=212750
|rsnum=3184504
}}
{{omim
|desc=DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
|id=612520
|rsnum=3184504
}}
{{omim
|desc=DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
|id=222100
|rsnum=3184504
}}
{{omim
|desc=CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13
|id=612011
|rsnum=3184504
}}

{{GET Evidence
|gene=SH2B3
|aa_change=Trp262Arg
|aa_change_short=W262R
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3184504
|overall_frequency_n=6818
|overall_frequency_d=10758
|overall_frequency=0.633761
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=89
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|in_gwas=Y
|in_pharmgkb=Y
|nblosum100=7
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}