rs11191582
This is a regulatory region 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.
hypertension, Antihypertensive use measurement
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 G
OR 0.08
p 4.0e-19
N 315,668
Major Consortium StudyLarge GWAS
European
schizophrenia
Yao X et al. “Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.” Translational Psychiatry 11(1):69 (2021)
Allele A
OR 0.16
p 3.0e-17
N 77,096
Large GWAS
European
bipolar disorder
Yao X et al. “Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.” Translational Psychiatry 11(1):69 (2021)
Allele A
OR 0.14
p 9.0e-13
N 51,710
Large GWAS
European
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 0.03
p 7.0e-12
N 145,502
Large GWAS
East Asian
body mass index
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 G
OR 0.05
p 8.0e-21
N 607,406
Major Consortium StudyLarge GWAS
multi-ancestry
hypertension
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 G
OR 0.09
p 6.0e-19
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
Kim YS et al. “Lifestage Sex-Specific Genetic Effects on Metabolic Disorders in an Adult Population in Korea: The Korean Genome and Epidemiology Study.” International Journal of Molecular Sciences 23(19) (2022)
Allele G
OR 0.90
p 3.0e-10
N 31,213
Large GWAS
East Asian
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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