rs6598541

This is a regulatory region variant variant in the IGF1R gene.

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GWAS Catalog Trait Associations (14)

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

urate measurement

Boocock J et al. “Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.” Human Molecular Genetics 29(6):923-943 (2020)
Allele A
OR 0.04
p 4.0e-17
N 131,709
Large GWAS
multi-ancestry
Köttgen A et al. “Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.” Nature Genetics 45(2):145-54 (2013)
Allele A
OR 0.04
p 5.0e-15
N 110,347
Large GWAS
European

left ventricular function

Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)
Allele A
OR 0.00
p 7.0e-15
N 36,083
Large GWAS
European, NR

glucose measurement

Chen J et al. “The trans-ancestral genomic architecture of glycemic traits.” Nature Genetics 53(6):840-860 (2021)
Allele A
OR —
β 0.011
p 4.0e-12
N 200,622
Large GWAS
European

hemoglobin measurement

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR 0.01
p 7.0e-11
N 563,946
Large GWAS
European

atrial fibrillation

Cárcel-Márquez J et al. “A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.” Frontiers in Cardiovascular Medicine 9:940696 (2022)
Allele A
OR 0.01
p 1.0e-10
N 1,030,836
Large GWAS
European
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.01
p 4.0e-10
N 1,486,094
Large GWAS
European

blood urea nitrogen amount

Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele A
OR 0.01
p 2.0e-10
N 58,406
Large GWAS
East Asian

left ventricular mass

Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)
Allele A
OR 0.30
p 4.0e-10
N 36,083
Large GWAS
European, NR

glomerular filtration rate

Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele A
OR 0.41
p 9.0e-10
N 58,406
Large GWAS
East Asian

About IGF1R

This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

View all IGF1R variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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