rs654537

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GWAS Catalog Trait Associations (3)

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

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 1.14
p 6.0e-42
N 754,406
Large GWAS
European
Zeng Y et al. “Genetic Associations Between Stress-Related Disorders and Autoimmune Disease.” The American Journal of Psychiatry 180(4):294-304 (2023)
Allele A
OR 0.89
p 7.0e-28
N 376,871
Large GWAS
European

hypothyroidism

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 0.12
p 4.0e-37
N 394,626
Large GWAS
European

thyroid disease, drug use measurement

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 G
OR 0.09
p 3.0e-20
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Identification of BACH2 as a susceptibility gene for Graves’ disease in the Chinese Han population based on a three-stage genome-wide association study
AssociationN=19,042Wei Liu et al.(2014)· Human Genetics

Three-stage genome-wide association study in 9,285 Chinese Han GD patients and 9,757 controls identifying BACH2 as a susceptibility gene for Graves' disease. rs2474619 in BACH2 intron 2 showed the strongest association with GD (OR=1.13, P=3.28×10⁻⁸). Fine mapping analysis also identified rs9344996 as an independent variant (OR=1.10, P=2.06×10⁻⁵), though rs2474619 remained the primary disease-associated signal.

Traits studied:Autoimmune thyroid diseaseCeliac diseaseCrohn's diseaseGraves' diseaseHashimoto's thyroiditisMultiple sclerosisType 1 diabetesVitiligo
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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