rs6780171
This is a intron variant variant in the IGF2BP2 gene.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
type 2 diabetes mellitus
Mahajan A et al. “Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.” Nature Genetics 50(11):1505-1513 (2018)
Allele A
OR 1.14
p 9.0e-56
N 898,130
Large GWAS
European
Loh M et al. “Identification of genetic effects underlying type 2 diabetes in South Asian and European populations.” Communications Biology 5(1):329 (2022)
Allele A
OR 0.12
p 5.0e-15
N 50,533
Large GWAS
South Asian
blood glucose amount
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.02
p 1.0e-40
N 928,679
Large GWAS
multi-ancestry
diabetic polyneuropathy
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 0.12
p 1.0e-27
N 439,904
Major Consortium StudyLarge GWAS
European
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 0.06
p 6.0e-19
N 626,668
Major Consortium StudyLarge GWAS
multi-ancestry
peak expiratory flow
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele A
OR 0.02
p 6.0e-19
N 321,047
Large GWAS
European
HbA1c measurement
Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele A
OR 0.04
p 3.0e-17
N 288,127
Large GWAS
East Asian
diastolic blood pressure
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 0.02
p 6.0e-12
N 425,735
Major Consortium StudyLarge GWAS
European
forced expiratory volume
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele A
OR 0.02
p 6.0e-12
N 321,047
Large GWAS
European
stroke, type 2 diabetes mellitus, coronary artery disease
Zhao C et al. “Genome-wide association study of cardiometabolic multimorbidity in the UK Biobank.” Clinical Genetics 106(1):72-81 (2024)
Allele A
OR 0.09
p 6.0e-12
N 367,147
Major Consortium StudyLarge GWAS
European
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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