rs12448902
This variant is located in the SH2B1 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cognitive function measurement
Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)
Allele C
OR 0.03
p 5.0e-19
N 257,841
Large GWAS
European
cognitive function measurement, self reported educational attainment
Demange PA et al. “Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction.” Nature Genetics 53(1):35-44 (2021)
Allele C
OR 0.06
p 1.0e-18
N 257,700
Large GWAS
European
erythrocyte count
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele G
OR 0.02
p 1.0e-10
N 172,952
Large GWAS
European
chromosome, telomeric region length
Liu WS et al. “Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications.” Geroscience 46(5):5365-5385 (2024)
Allele G
OR 0.01
p 1.0e-8
N 327,790
Large 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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