rs629849

This is a protein-altering variant in the IGF2R gene.

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GWAS Catalog Trait Associations (2)

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

cation-independent mannose-6-phosphate receptor measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.54
p 9.0e-172
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.90
p 1.0e-162
N 3,301
Large GWAS
European
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele A
OR 0.90
p 5.0e-52
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.64
p 2.0e-151
N 5,361
Large GWAS
European
Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele A
OR 0.65
p 6.0e-86
N 3,200
Large GWAS
European
Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele A
OR 1.02
p 6.0e-10
N 198
Small GWAS
European

About IGF2R

This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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