rs116909374
This is a regulatory region variant variant in the LOC124903302 gene.
▶GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (11)
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 T
OR 0.20
p 6.0e-257
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 T
OR 0.19
p 7.0e-123
N 247,107
Large GWAS
multi-ancestry
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 T
OR 0.17
p 3.0e-39
N 164,818
Large GWAS
European
Zhou W et al. “GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.” Nature Communications 11(1):3981 (2020)
Allele T
OR 0.17
p 8.0e-30
N 119,715
Large GWAS
European
Taylor PN et al. “Whole-genome sequence-based analysis of thyroid function.” Nature Communications 6:5681 (2015)
Allele T
OR 0.21
p 5.0e-11
N 16,335
Large GWAS
European
nodular goiter
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 T
OR 0.35
p 2.0e-93
N 2,460,445
Large GWAS
multi-ancestry
thyroid cancer
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele T
OR 0.56
p 5.0e-32
N 1,620,354
Meta-analysisLarge GWAS
multi-ancestry
level of thyrotropin subunit beta in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.16
p 1.0e-27
N 47,745
Large GWAS
European
nontoxic goiter
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.34
p 3.0e-19
N 625,682
Major Consortium StudyLarge GWAS
multi-ancestry
thyroxine level
Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele T
OR 0.07
p 9.0e-17
N 191,449
Large GWAS
European
thyroid carcinoma
Gudmundsson J et al. “A genome-wide association study yields five novel thyroid cancer risk loci.” Nature Communications 8:14517 (2017)
Allele T
OR 1.81
p 1.0e-16
N 290,551
Large GWAS
European
Gudmundsson J et al. “Discovery of common variants associated with low TSH levels and thyroid cancer risk.” Nature Genetics 44(3):319-22 (2012)
Allele T
OR 2.09
p 5.0e-11
N 27,758
Large GWAS
European
differentiated thyroid carcinoma
Truong T et al. “Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium.” International Journal of Cancer 148(12):2935-2946 (2021)
Allele C
OR 0.43
p 2.0e-10
N 3,527
Major Consortium StudyLarge GWAS
European
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 T
OR 0.16
p 3.0e-49
N 1,786,062
Large GWAS
European
Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele T
OR 0.13
p 1.0e-18
N 1,178,661
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.16
p 7.0e-16
N 441,274
Major Consortium StudyLarge GWAS
European
multinodular goiter
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.59
p 1.0e-28
N 448,210
Major Consortium StudyLarge GWAS
European
▶Research that mentions this SNP (1)
▶Significant SNPs have limited prediction ability for thyroid cancerAssociationN=1,850Shicheng Guo et al.(2014)· Cancer Medicine
Significant SNPs have limited prediction ability for thyroid cancer
AssociationN=1,850Shicheng Guo et al.(2014)· Cancer Medicine
Case-control study genotyping five thyroid cancer-associated SNPs (rs965513 OR=1.53, rs944289 OR=1.51, rs966423 OR=1.32, rs2439302 OR=1.40; rs116909374 not detected) in 845 Han Chinese papillary thyroid carcinoma cases and 1,005 controls. Although significant associations were confirmed, prediction accuracy was limited (AUC 0.54-0.60 across nine machine learning methods) with low sensitivity (0.28-0.48), indicating minimal clinical utility despite large odds ratios.
Traits studied:Papillary thyroid carcinomaThyroid cancer
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…