rs34872471

This is a intron variant variant in the TCF7L2 gene.

GWAS Catalog Trait Associations (35)

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

type 2 diabetes mellitus

Allele C
OR 0.29
p
N 6,710,881
Meta-analysisLarge GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.30
p 1.0e-234
N 667,504
Large GWAS
multi-ancestry
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 C
OR 0.23
p 9.9e-324
N 612,947
Major Consortium StudyLarge GWAS
multi-ancestry
Allele C
OR 0.29
p 1.0e-49
N 216,287
Meta-analysisLarge GWAS
East Asian, South Asian
Cook JP et al. Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility. European Journal of Human Genetics : Ejhg 24(8):1175-80 (2016)
Allele C
OR 1.31
p 6.0e-53
N 71,604
Large GWAS
multi-ancestry
Allele C
OR 1.42
p 1.0e-94
N 70,127
Large GWAS
European
Allele C
OR 0.78
p 3.0e-46
N 60,975
Large GWAS
Hispanic or Latin American
Guindo-Martínez M et al. The impact of non-additive genetic associations on age-related complex diseases. Nature Communications 12(1):2436 (2021)
Allele C
OR 1.36
p 1.0e-52
N 56,637
Large GWAS
European
Allele C
OR 1.43
p 3.0e-23
N 41,646
Large GWAS
multi-ancestry

diabetes mellitus

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 0.26
p 9.9e-324
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

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 T
OR 0.26
p 9.9e-324
N 315,668
Major Consortium StudyLarge GWAS
European

glucose 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 T
OR 0.12
p 9.9e-324
N 601,111
Major Consortium StudyLarge GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 3.0e-85
N 448,252
Large GWAS
multi-ancestry
Allele T
OR 0.04
p 3.0e-17
N 114,870
Large GWAS
European
Allele T
OR 0.04
p 1.0e-16
N 88,174
Large GWAS
European
Allele T
OR 0.07
p 9.0e-11
N 38,000
Large GWAS
South Asian

HbA1c 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 T
OR 0.15
p 9.9e-324
N 492,335
Major Consortium StudyLarge GWAS
multi-ancestry
Allele T
OR 0.07
p 5.0e-17
N 38,000
Large GWAS
South Asian

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 T
OR 0.30
p 3.0e-261
N 432,209
Major Consortium StudyLarge GWAS
European
Allele T
OR 0.29
p 4.0e-15
N 62,229
Meta-analysisMajor Consortium StudyLarge GWAS
European

diabetic eye disease

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 0.30
p 2.0e-248
N 431,357
Major Consortium StudyLarge GWAS
European

body mass index

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 0.07
p 3.0e-121
N 424,231
Major Consortium StudyLarge GWAS
European
Huang J et al. Genomics and phenomics of body mass index reveals a complex disease network. Nature Communications 13(1):7973 (2022)
Allele T
OR 0.03
p 9.0e-9
N 98,277
Large GWAS
multi-ancestry

type 2 diabetes nephropathy

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 0.22
p 5.0e-116
N 439,106
Major Consortium StudyLarge GWAS
European

Research that mentions this SNP (1)

Genome‐wide interaction with the insulin secretion locus MTNR1B reveals CMIP as a novel type 2 diabetes susceptibility gene in African Americans
AssociationN=6,224Jacob M. Keaton et al.(2018)· Genetic Epidemiology

This genome-wide interaction analysis in 6,224 African Americans identified CMIP rs17197883 as a novel type 2 diabetes susceptibility locus through interaction with the insulin secretion variant MTNR1B rs10830963. The CMIP variant showed antagonistic interaction (P_INTXN = 1.43×10^-8) with opposite effects depending on MTNR1B carrier status: OR = 2.29 (95% CI 1.59-3.28) in AIRg-lowering allele carriers vs. OR = 0.78 (95% CI 0.67-0.90) in non-carriers.

Traits studied:Acute insulin response to glucoseFasting glucoseType 2 diabetes

About TCF7L2

This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]

View all TCF7L2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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