rs11191580

This is a regulatory region variant variant in the NT5C2 gene.

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GWAS Catalog Trait Associations (8)

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

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele C

OR 0.97

p 1.0e-111

N 1,028,980

Large GWAS

multi-ancestry

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 C

OR 0.06

p 4.0e-83

N 1,212,859

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.04

p 2.0e-31

N 394,642

Large GWAS

European

Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)

Allele C

OR 0.04

p 1.0e-10

N 174,664

Large GWAS

multi-ancestry

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 C

OR 0.67

p 7.0e-15

N 130,777

Large GWAS

multi-ancestry

Li C et al. “Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians.” Circulation. Cardiovascular Genetics 10(2):e001527 (2017)

Allele C

OR 0.97

p 4.0e-15

N 18,422

Meta-analysisLarge GWAS

multi-ancestry

pulse pressure measurement

Allele C

OR 0.56

p 3.0e-74

N 1,028,980

Large GWAS

multi-ancestry

Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)

Allele C

OR 0.03

p 1.0e-15

N 349,328

Large GWAS

multi-ancestry

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 C

OR 0.43

p 9.0e-13

N 130,777

Large GWAS

multi-ancestry

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 C

OR 0.05

p 9.0e-56

N 1,212,859

Large GWAS

European

Allele C

OR 0.42

p 2.0e-55

N 1,028,980

Large GWAS

multi-ancestry

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.03

p 5.0e-15

N 394,642

Large GWAS

European

hypertension

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.08

p 9.0e-21

N 394,626

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 C

OR 0.11

p 2.0e-13

N 50,792

Large GWAS

multi-ancestry

Jeong H et al. “Identifying Interactions between Dietary Sodium, Potassium, Sodium-Potassium Ratios, and FGF5 rs16998073 Variants and Their Associated Risk for Hypertension in Korean Adults.” Nutrients 12(7) (2020)

Allele C

OR 0.86

p 3.0e-8

N 17,736

Large GWAS

East Asian

amount of iron in brain

Casanova F et al. “MRI-derived brain iron, grey matter volume, and risk of dementia and Parkinson's disease: Observational and genetic analysis in the UK Biobank cohort.” Neurobiology of Disease 197:106539 (2024)

Allele T

OR 0.10

p 6.0e-16

N 39,533

Major Consortium StudyLarge GWAS

European

body mass index

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 0.031

p 2.0e-11

N 309,889

Large GWAS

European

Wen W et al. “Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.” Human Molecular Genetics 23(20):5492-504 (2014)

Allele T

OR 0.03

p 4.0e-8

N 86,739

Meta-analysisLarge GWAS

multi-ancestry

mean arterial 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 0.39

p 1.0e-10

N 130,777

Large GWAS

multi-ancestry

schizophrenia

“Genome-wide association study identifies five new schizophrenia loci.” Nature Genetics 43(10):969-76 (2011)

Allele T

OR 1.20

p 3.0e-8

N 21,856

Large GWAS

European

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Research that mentions this SNP (2)

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Neurophysiologic effect of GWAS derived schizophrenia and bipolar risk variants

FunctionalN=273Mei‐Hua Hall et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This functional study investigated neurophysiologic effects of genome-wide association study (GWAS)-derived schizophrenia (SCZ) and bipolar disorder (BPD) risk variants in 199 patients with psychotic illness and 74 healthy controls. The SCZ risk allele (G) at TCF4 rs17512836 showed significant association with reduced auditory P3 amplitude (P=0.00017) and delayed P3 latency (P=0.005), suggesting a mechanism involving compromised attention and working memory capacity in psychotic disorders.

Traits studied:Bipolar disorderN1 amplitudeP2 amplitudeP3 amplitudeP3 latencyP50 sensory gatingPsychosisSchizophrenia

PubMed DOI Metascience Observatory

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Association analysis of ANK3 gene variants in nordic bipolar disorder and schizophrenia case–control samples

ReviewMartin Tesli et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This review comprehensively summarizes the latest genetic studies on schizophrenia, including family studies (heritability ~80%), genome-wide association studies, epigenetic mechanisms, candidate gene investigations, and next-generation sequencing findings. Key GWAS findings identified 108 schizophrenia-associated loci including variants in MIR137 (rs1625579), TCF4 (rs12966547), CSMD1 (rs10503253), CACNA1C (rs4765905), ANK3 (rs10761482), and MHC region variants, with evidence for polygenetic inheritance involving both common SNPs and rare copy number variations.

Traits studied:Auditory steady-state responseAutism spectrum disorderBipolar disorderCognitive impairmentMental retardationSchizophreniaSchizophrenia endophenotypesSchizophrenia with general psychopathologic symptomsSchizophrenia with negative symptomsSchizophrenia with positive symptomsSensory processing disorderTreatment-resistant schizophreniaUnipolar depression

PubMed DOI Metascience Observatory

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]

rs11191580

GWAS Catalog Trait Associations (8)

systolic blood pressure

pulse pressure measurement

diastolic blood pressure

hypertension

amount of iron in brain

body mass index

mean arterial pressure

schizophrenia

Research that mentions this SNP (2)

About NT5C2

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