rs12489828

This variant is located in the NT5DC2 gene.

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GWAS Catalog Trait Associations (8)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

hematocrit

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.01
p 2.0e-23
N 928,679
Large GWAS
multi-ancestry

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.12
p 1.0e-20
N 10,708
Large GWAS
European

reticulocyte count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.03
p 2.0e-15
N 170,641
Large GWAS
European

cognitive domain measurement

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.03
p 5.0e-14
N 168,864
Large GWAS
European

BMI-adjusted waist-hip ratio

Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele T
OR —
β 0.022
p 2.0e-11
N 252,375
Large GWAS
European
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele T
OR 0.03
p 1.0e-9
N 143,480
Large GWAS
multi-ancestry

intelligence

Hill WD et al. “A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.” Molecular Psychiatry 24(2):169-181 (2019)
Allele T
OR 0.02
p 8.0e-11
N 248,482
Large GWAS
European

BMI-adjusted waist circumference

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele T
OR 0.03
p 6.0e-10
N 143,480
Large GWAS
multi-ancestry

About NT5DC2

Predicted to enable 5'-nucleotidase activity. Predicted to be involved in negative regulation of dopamine biosynthetic process; negative regulation of oxidoreductase activity; and negative regulation of peptidyl-serine phosphorylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

View all NT5DC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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