rs10946364
This is a intron variant variant in the MBOAT1 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 1.35
p 4.0e-8
N 5,161
Meta-analysis
European
About MBOAT1
This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
View all MBOAT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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