rs10748781

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GWAS Catalog Trait Associations (5)

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 A

OR 0.06

p 2.0e-163

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 A

OR 0.05

p 3.0e-83

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 A

OR 0.05

p 5.0e-44

N 164,818

Large GWAS

European

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 A

OR 0.07

p 5.0e-57

N 153,950

Large GWAS

East Asian

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 A

OR 0.06

p 6.0e-35

N 119,715

Large GWAS

European

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 A

OR 0.05

p 1.0e-11

N 67,471

Large GWAS

East Asian

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 7.0e-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 A

OR 0.07

p 8.0e-48

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 1.06

p 1.0e-11

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 0.06

p 7.0e-9

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 0.06

p 5.0e-15

N 494,577

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 A

OR 0.06

p 1.0e-24

N 441,274

Major Consortium StudyLarge 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 A

OR 0.06

p 1.0e-11

N 394,626

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 C

OR 1.06

p 8.0e-12

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 0.06

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 0.05

p 7.0e-9

N 305,582

Major Consortium StudyLarge GWAS

European

ulcerative colitis

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 0.12

p 5.0e-10

N 596,621

Large GWAS

multi-ancestry

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Research that mentions this SNP (1)

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Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population

AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies

PubMed DOI Metascience Observatory

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

rs10748781

GWAS Catalog Trait Associations (5)

Thyroid stimulating hormone level

hypothyroidism

autoimmune thyroid disease

Thyroid preparation use measurement

ulcerative colitis

Research that mentions this SNP (1)

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