rs7965392
This is a upstream gene variant variant in the GXYLT1 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.
diastolic blood pressure
Evangelou E et al. “Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.” Nature Genetics 50(10):1412-1425 (2018)
Allele G
OR 0.11
p 4.0e-10
N 757,601
Large GWAS
European
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele G
OR 0.01
p 4.0e-9
N 1,212,859
Large GWAS
European
Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele G
OR 0.10
p 4.0e-10
N 1,028,980
Large GWAS
multi-ancestry
About GXYLT1
GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]
View all GXYLT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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