rs6769511
This is a intron variant variant in the IGF2BP2 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
heel bone mineral density
Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele T
OR 0.01
p 5.0e-14
N 426,824
Large GWAS
European
body mass index
Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.01
p 3.0e-10
N 1,122,049
Large GWAS
European
type 2 diabetes mellitus
Unoki H et al. “SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.” Nature Genetics 40(9):1098-102 (2008)
Allele C
OR 1.23
p 1.0e-9
N 1,752
Large GWAS
multi-ancestry
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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