rs7630554
This is a regulatory region variant variant in the IGF2BP2 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
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 9.0e-100
N 482,873
Large GWAS
European
Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)
Allele G
OR 0.05
p 2.0e-31
N 164,818
Large GWAS
European
diabetes mellitus, Drugs used in diabetes 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 A
OR 0.12
p 6.0e-63
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
Drugs used in diabetes use measurement
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 0.12
p 2.0e-54
N 484,639
Large GWAS
multi-ancestry
diabetic retinopathy
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 0.12
p 2.0e-45
N 611,288
Major Consortium StudyLarge GWAS
multi-ancestry
type 2 diabetes mellitus
Petty LE et al. “Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits.” Nature Communications 16(1):3438 (2025)
Allele A
OR 0.89
p 7.0e-13
N 60,975
Large GWAS
Hispanic or Latin American
About IGF2BP2
This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]
View all IGF2BP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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