rs192613545
This is a intron variant variant in the SH2B1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
response to angiotensin-converting enzyme inhibitor
Mahmoudpour SH et al. “Meta-analysis of genome-wide association studies on the intolerance of angiotensin-converting enzyme inhibitors.” Pharmacogenetics and Genomics 27(3):112-119 (2017)
Allele T
OR 2.34
p 3.0e-8
N 5,161
Meta-analysis
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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