rs56226746
This variant is located in the SH2B1 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body mass index
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.04
p 6.0e-40
N 607,391
Major Consortium StudyLarge GWAS
multi-ancestry
Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.04
p 2.0e-10
N 98,277
Large GWAS
multi-ancestry
body weight
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.04
p 4.0e-38
N 609,187
Major Consortium StudyLarge GWAS
multi-ancestry
alcohol consumption quality
Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele A
OR 0.01
p 7.0e-27
N 2,965,643
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified
mean reticulocyte volume
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 2.0e-17
N 408,112
Large GWAS
European
testosterone measurement
Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele A
OR —
β 0.000
p 2.0e-9
N 148,248
Major Consortium StudyLarge GWAS
European
About SH2B1
This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
View all SH2B1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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