rs79780963
This variant is located 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.
systolic blood pressure
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 T
OR 0.06
p 4.0e-78
N 1,212,859
Large GWAS
European
Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 1.08
p 1.0e-57
N 526,001
Large GWAS
European
diastolic blood pressure
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 T
OR 0.05
p 3.0e-52
N 1,212,859
Large GWAS
European
Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.51
p 6.0e-39
N 526,001
Large GWAS
European
pulse pressure measurement
Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.49
p 4.0e-26
N 526,001
Large GWAS
European
body mass index
Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.02
p 1.0e-12
N 1,122,049
Large GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele C
OR 0.03
p 1.0e-11
N 694,649
Large GWAS
European
coronary artery disease
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 T
OR 0.03
p 1.0e-8
N 640,258
Large GWAS
European, East Asian
brain aneurysm
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.16
p 2.0e-8
N 628,837
Large GWAS
multi-ancestry
Bakker MK et al. “Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.” Nature Genetics 52(12):1303-1313 (2020)
Allele T
OR 0.23
p 7.0e-9
N 79,429
Large 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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