rs4804416

This is a intron variant variant in the INSR gene.

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GWAS Catalog Trait Associations (9)

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 G
OR 0.05
p 4.0e-142
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 G
OR 0.05
p 3.0e-101
N 247,107
Large GWAS
multi-ancestry
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 G
OR 0.05
p 2.0e-32
N 119,715
Large GWAS
European

triglyceride 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 T
OR 0.04
p 1.0e-40
N 391,626
Major Consortium StudyLarge GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele T
OR —
β 0.021
p 4.0e-8
N 94,674
Large GWAS
multi-ancestry

high density lipoprotein cholesterol 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 T
OR 0.03
p 2.0e-29
N 404,121
Major Consortium StudyLarge GWAS
European

sex hormone-binding globulin measurement

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele G
OR 1.20
p 9.0e-18
N 158,000
Major Consortium StudyLarge GWAS
European

goiter

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.19
p 2.0e-15
N 633,436
Large GWAS
multi-ancestry

non-alcoholic fatty liver disease

Du M et al. “Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD.” Science Advances 12(7):eaeb5665 (2026)
Allele T
OR 0.03
p 2.0e-11
N 122,644
Large GWAS
European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele G
OR 0.03
p 2.0e-26
N 472,730
Large GWAS
East Asian

hypothyroidism

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 0.09
p 5.0e-56
N 441,135
Major Consortium StudyLarge GWAS
European

About INSR

This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

View all INSR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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