rs77420391
This is a intron variant variant in the NT5C2 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
mean arterial pressure
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.04
p 5.0e-34
N 506,365
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 A
OR 0.76
p 2.0e-22
N 130,777
Large GWAS
multi-ancestry
diastolic blood pressure
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.03
p 3.0e-18
N 485,677
Large GWAS
multi-ancestry
Anxiety
Nagel M et al. “Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.” Nature Genetics 50(7):920-927 (2018)
Allele A
OR 0.03
p 2.0e-12
N 348,219
Meta-analysisLarge GWAS
European
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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