{{Rsnum
|rsid=7498665
|Gene=SH2B1
|Chromosome=16
|position=28871920
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2654
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SH2B1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 38.1 | 47.8 | 14.2
| HCB | 73.7 | 21.9 | 4.4
| JPT | 74.3 | 23.9 | 1.8
| YRI | 59.9 | 35.4 | 4.8
| ASW | 63.2 | 29.8 | 7.0
| CHB | 73.7 | 21.9 | 4.4
| CHD | 79.8 | 19.3 | 0.9
| GIH | 56.0 | 33.0 | 11.0
| LWK | 63.3 | 33.9 | 2.8
| MEX | 35.7 | 53.6 | 10.7
| MKK | 77.6 | 22.4 | 0.0
| TSI | 53.5 | 38.6 | 7.9
| HapMapRevision=28
}}{{PMID|19164386|OA=1
}} [[obesity]] and [[type-2 diabetes]]
*[[rs1121980]]
*[[rs7498665]]
*[[rs4752856]]
*[[rs17782313]]
*[[rs2815752]] 
*[[rs10938397]]

{{PMID Auto GWAS
|PMID=19079260
|Trait=Body mass index
|Title=Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity
|RiskAllele=G
|Pval=3E-10
|OR=3.63
|ORtxt=[2.49-4.77] % SD
}}
{{PMID Auto GWAS
|PMID=19079261
|Trait=Body mass index
|Title=Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
|RiskAllele=G
|Pval=5E-11
|OR=0.15
|ORtxt=[0.08-0.21] kg/m2 increase
|OA=1
}}

{{PharmGKB
|RSID=rs7498665
|Name_s=
|Gene_s=SH2B1, ATP2A1
|Feature=
|Evidence=PubMed ID:19079260; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (Initial Sample Size: 80,969 individuals; Replication Sample Size: 11,036 individuals); (Region: 16p11.2; Reported Gene(s): SH2B1, ATP2A1; Risk Allele: rs7498665-G); (p-value= 0.000000001).This variant is associated with Weight.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740171
}}

{{PMID Auto
|PMID=20386550
|Title=Genes and lifestyle factors in obesity: results from 12 462 subjects from MONICA/KORA
|OA=1
}}

{{PharmGKB
|RSID=rs7498665
|Name_s=
|Gene_s=SH2B1, ATP2A1
|Feature=
|Evidence=PubMed ID:19079260; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (Initial Sample Size: 80,969 individuals; Replication Sample Size: 11,036 individuals); (Region: 16p11.2; Reported Gene(s): SH2B1, ATP2A1; Risk Allele: rs7498665-G); (p-value= 0.0000000003).This variant is associated with Body mass index.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740157
}}

{{PharmGKB
|RSID=rs7498665
|Name_s=
|Gene_s=SH2B1, ATP2A1
|Feature=
|Evidence=PubMed ID:19079261; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. (Initial Sample Size: 32,387 individuals; Replication Sample Size: 59,092 individuals); (Region: 16p11.2; Reported Gene(s): SH2B1; Risk Allele: rs7498665-G); (p-value= 0.00000000005).This variant is associated with Body mass index.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740183
}}

{{omim
|id=601665
|rsnum=7498665
}}

{{omim
|id=613444
|rsnum=7498665
}}

{{PMID Auto
|PMID=21796141
|Title=Computed tomography analysis of the association between the SH2B1 rs7498665 single-nucleotide polymorphism and visceral fat area
}}

{{PMID Auto
|PMID=21912638
|Title=Studies of metabolic phenotypic correlates of 15 obesity associated gene variants
|OA=1
}}

{{PMID Auto
|PMID=21907990
|Title=The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cells
|OA=1
}}

{{PMID Auto
|PMID=22248999
|Title=Replication of the SH2B1 rs7498665 association with obesity in a Belgian study population
}}

{{PMID Auto
|PMID=22083549
|Title=Study of eight GWAS-identified common variants for association with obesity-related indices in Chinese children at puberty
}}

{{PMID Auto
|PMID=17228025
|Title=The SH2B gene is associated with serum leptin and body fat in normal female twins.
|OA=1
}}

{{PMID Auto
|PMID=19478790
|Title=The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI.
|OA=1
}}

{{PMID Auto
|PMID=19526209
|Title=Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
|OA=1
}}

{{PMID Auto
|PMID=19553259
|Title=Common body mass index-associated variants confer risk of extreme obesity.
|OA=1
}}

{{PMID Auto
|PMID=19910938
|Title=Novel obesity risk loci do not determine distribution of body fat depots: a whole-body MRI/MRS study.
}}

{{PMID Auto
|PMID=20127379
|Title=From monogenic to polygenic obesity: recent advances.
|OA=1
}}

{{PMID Auto
|PMID=20369022
|Title=Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
|OA=1
}}

{{PMID Auto
|PMID=20712903
|Title=Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
|OA=1
}}

{{PMID Auto
|PMID=20725061
|Title=MC4R variant is associated with BMI but not response to resistance training in young females.
}}

{{PMID Auto
|PMID=20824172
|Title=Physical activity attenuates the genetic predisposition to obesity in 20,000 men and women from EPIC-Norfolk prospective population study.
|OA=1
}}

{{PMID Auto
|PMID=21283731
|Title=FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.
|OA=1
}}

{{GET Evidence
|gene=SH2B1
|aa_change=Thr484Ala
|aa_change_short=T484A
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7498665
|overall_frequency_n=3694
|overall_frequency_d=10758
|overall_frequency=0.343372
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=22
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|nblosum100=1
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23270367
|Title=Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants
|OA=1
}}

{{PMID Auto
|PMID=23519644
|Title=Analyses of Non-Synonymous Obesity Risk Alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in Obese Children and Adolescents Undergoing a 1-year Lifestyle Intervention
}}

{{PMID Auto GWAS
  |PMID=23563607
  |Trait=Obesity
  |Title=Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
  |RiskAllele=G
  |Pval=3E-13
  |OR=1.07
  |ORtxt=[NR]
  |OA=1
}}

{{PMID Auto
|PMID=24621099
|Title=Meta-analyses between 18 candidate genetic markers and overweight/obesity
|OA=1
}}

{{PMID Auto
|PMID=23640704
|Title=Common variants near BDNF and SH2B1 show nominal evidence of association with snacking behavior in European populations
}}

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