rs114026228
This is a intron variant variant in the TSPAN5 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
alcohol consumption quality
Clarke TK et al. “Genome-wide association study of alcohol consumption and genetic overlap with other health-related traits in UK Biobank (N=112 117).” Molecular Psychiatry 22(10):1376-1384 (2017)
Allele C
OR 0.03
p 4.0e-13
N 112,117
Major Consortium StudyLarge GWAS
European
pulse pressure measurement
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele C
OR 0.06
p 5.0e-9
N 670,472
Meta-analysisLarge GWAS
European
About TSPAN5
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
View all TSPAN5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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