rs11191593
This is a downstream gene variant variant in the NT5C2 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
mean arterial pressure
Wain LV et al. “Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.” Nature Genetics 43(10):1005-11 (2011)
Allele T
OR 0.66
p 1.0e-15
N 74,064
Large GWAS
European
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.41
p 8.0e-11
N 130,777
Large GWAS
multi-ancestry
systolic blood pressure
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.70
p 3.0e-15
N 130,777
Large GWAS
multi-ancestry
coronary atherosclerosis
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.07
p 5.0e-15
N 602,192
Major Consortium StudyLarge GWAS
multi-ancestry
angina pectoris
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.08
p 3.0e-13
N 508,073
Large GWAS
multi-ancestry
pulse pressure measurement
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.45
p 4.0e-13
N 130,777
Large GWAS
multi-ancestry
hypertension
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.11
p 6.0e-13
N 50,792
Large GWAS
multi-ancestry
About NT5C2
This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]
View all NT5C2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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