rs9310736

This variant is located in the THRB gene.

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GWAS Catalog Trait Associations (5)

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

erythrocyte volume

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 0.07
p 2.0e-90
N 583,880
Major Consortium StudyLarge GWAS
multi-ancestry
van der Harst P et al. “Seventy-five genetic loci influencing the human red blood cell.” Nature 492(7429):369-75 (2012)
Allele A
OR 0.21
p 6.0e-16
N 71,861
Large GWAS
multi-ancestry
Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele A
OR 0.07
p 3.0e-8
N 14,364
Large GWAS
East Asian

mean corpuscular hemoglobin concentration

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-15
N 55,783
Major Consortium StudyLarge GWAS
Hispanic or Latin American

chromosome, telomeric region length

Burren OS et al. “Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.” Nature Genetics 56(9):1832-1840 (2024)
Allele A
OR 0.02
p 6.0e-14
N 438,351
Major Consortium StudyLarge GWAS
European

hemoglobin measurement, mean corpuscular hemoglobin

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele A
OR 0.08
p 4.0e-10
N 14,362
Large GWAS
East Asian

About THRB

The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]

View all THRB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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