rs56348580

This variant is located in the HNF1A gene.

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GWAS Catalog Trait Associations (2)

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

sugar consumption measurement

Cole JB et al. “Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations.” Nature Communications 11(1):1467 (2020)
Allele G
OR 0.01
p 1.0e-8
N 447,391
Major Consortium StudyLarge GWAS
European

type 2 diabetes mellitus

Vujkovic M et al. “Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.” Nature Genetics 52(7):680-691 (2020)
Allele G
OR 0.05
p 1.0e-27
N 1,407,282
Meta-analysisLarge GWAS
multi-ancestry
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 G
OR 1.05
p 2.0e-13
N 898,130
Large GWAS
European
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ClinVar annotation

Conflicting Classifications
13 submitters16 publications

not specified; Maturity-onset diabetes of the young type 3; not provided; Type 2 diabetes mellitus; Maturity-onset diabetes of the young; Nonpapillary renal cell carcinoma

View on ClinVar →

About HNF1A

The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

View all HNF1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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