rs2494734

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GWAS Catalog Trait Associations (1)

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

Thyroid stimulating hormone level

Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele G
OR 0.05
p 1.0e-110
N 482,873
Large GWAS
European
Williams AT et al. “Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease.” Nature Communications 14(1):6713 (2023)
Allele G
OR 0.04
p 4.0e-59
N 247,107
Large GWAS
multi-ancestry
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 G
OR 0.04
p 4.0e-24
N 153,950
Large GWAS
East Asian
Wei Y et al. “Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies.” Nature Communications 15(1):8004 (2024)
Allele G
OR 0.06
p 5.0e-14
N 67,471
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Biological Validation of Increased Schizophrenia Risk With NRG1, ERBB4, and AKT1 Epistasis via Functional Neuroimaging in Healthy Controls
AssociationN=2,889Kristin K. Nicodemus et al.(2010)· Archives of General Psychiatry

This study examined epistatic interactions between SNPs in NRG1 and genes in the NMDA-glutamate pathway (ERBB4, AKT1, DLG4, NOS1, NOS1AP) in schizophrenia using case-control and neuroimaging approaches. In two independent samples (US sibling study: 296 cases/365 controls; German sample: 905 cases/1323 controls), significant gene-gene interactions were identified, including rs4560751 × rs3802160 (OR=4.56, p=0.0002), NRG1 rs10503929 × ERBB4 rs1026882 (OR=2.25, p=0.035), and a three-way interaction in NRG1-ERBB4-AKT1. These interactions were biologically validated by showing that risk allele carriers had inefficient dorsolateral prefrontal cortex (DLPFC) activation during working memory fMRI tasks.

Traits studied:Schizophrenia
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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