rs61361928

This is a variant in the UGT2B7 gene that changes a leucine to an proline.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

AR-C124910XX measurement

Varenhorst C et al. “Effect of genetic variations on ticagrelor plasma levels and clinical outcomes.” European Heart Journal 36(29):1901-12 (2015)
Allele T
OR 0.39
p 8.0e-14
N 1,812
Large GWAS
multi-ancestry

gamma-CEHC measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.45
p 9.0e-11
N 14,296
Large GWAS
European

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.10
p 7.0e-10
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.10
p 4.0e-9
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Drug Response★☆☆☆
2 submitters1 publication

Tramadol response

View on ClinVar →

About UGT2B7

The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

View all UGT2B7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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