rs2234167

This variant is located in the TNFRSF14 gene.

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GWAS Catalog Trait Associations (4)

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

hypothyroidism

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)

Allele A

OR 0.06

p 1.0e-34

N 2,444,128

Large GWAS

multi-ancestry

Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)

Allele A

OR 0.07

p 2.0e-20

N 1,178,661

Large GWAS

European

Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)

Allele A

OR 1.10

p 1.0e-16

N 691,986

Large GWAS

European

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 0.08

p 4.0e-8

N 583,911

Large GWAS

multi-ancestry

Mathieu S et al. “Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms.” Iscience 25(9):104992 (2022)

Allele A

OR 0.08

p 2.0e-10

N 494,577

Large GWAS

European

autoimmune thyroid disease

Saevarsdottir S et al. “FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.” Nature 584(7822):619-623 (2020)

Allele A

OR 1.09

p 2.0e-11

N 754,406

Large GWAS

European

Thyroid preparation use measurement

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 0.08

p 2.0e-10

N 484,308

Large GWAS

multi-ancestry

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)

Allele A

OR 0.08

p 9.0e-10

N 305,582

Major Consortium StudyLarge 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 G

OR 0.01

p 3.0e-8

N 1,122,049

Large GWAS

European

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ClinVar annotation

not_provided

1 submitter1 publication

not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic association of ACSM1 variation with schizophrenia and major depressive disorder in the Han Chinese population

AssociationN=593Wenjin Li et al.(2015)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Exome sequencing study of 30 Brazilian ADHD trios identified 26 de novo SNVs, 134 very rare heterozygous variants, and 127 rare homozygous mutations across brain-expressed genes. Integration with 503 Brazilian controls and public ADHD databases revealed genes in glutamatergic and serotonergic synaptic pathways, cell adhesion, and synapse-related biological functions as significantly enriched in ADHD.

Traits studied:Attention-Deficit/Hyperactivity Disorder (ADHD)

PubMed DOI Metascience Observatory

About TNFRSF14

This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

rs2234167

GWAS Catalog Trait Associations (4)

hypothyroidism

autoimmune thyroid disease

Thyroid preparation use measurement

body mass index

ClinVar annotation

Research that mentions this SNP (1)

About TNFRSF14

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