rs1800574

This is a protein-altering variant in the HNF1A gene.

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GWAS Catalog Trait Associations (17)

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

IGF-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.13
p 5.0e-123
N 394,642
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.14
p 5.0e-94
N 353,824
Major Consortium StudyLarge GWAS
multi-ancestry

type 2 diabetes mellitus

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele T
OR —
p 7.0e-47
N 2,535,601
Large 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 T
OR 1.14
p 2.0e-12
N 898,130
Large GWAS
European
Mahajan A et al. “Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.” Nature Genetics 54(5):560-572 (2022)
Allele T
OR 1.16
p 8.0e-21
N 492,192
Large GWAS
multi-ancestry
Huerta-Chagoya A et al. “Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.” Nature Genetics 56(11):2370-2379 (2024)
Allele T
OR 0.20
p 2.0e-18
N 421,743
Large GWAS
multi-ancestry

neural cell adhesion molecule L1-like protein amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.23
p 2.0e-46
N 47,745
Large GWAS
European

urate measurement

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele T
OR 0.07
p 6.0e-23
N 630,117
Large GWAS
European
Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele T
OR 0.07
p 3.0e-16
N 677,373
Meta-analysisLarge GWAS
European
Tin A et al. “Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.” Nature Genetics 51(10):1459-1474 (2019)
Allele T
OR 0.08
p 3.0e-14
N 457,690
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 1.0e-14
N 394,642
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.05
p 1.0e-14
N 355,426
Major Consortium StudyLarge GWAS
multi-ancestry

glomerular filtration rate

Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele T
OR 9.72
p 2.0e-22
N 1,508,659
Large GWAS
multi-ancestry
Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele T
OR 0.01
p 2.0e-21
N 1,201,930
Large GWAS
multi-ancestry
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.06
p 9.0e-16
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

serum creatinine 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 T
OR 0.06
p 3.0e-21
N 928,679
Large 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 0.04
p 4.0e-14
N 494,370
Large GWAS
multi-ancestry
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.04
p 5.0e-17
N 450,015
Large GWAS
multi-ancestry
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.06
p 1.0e-15
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

triglycerides to total lipids in medium LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.05
p 8.0e-16
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in IDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.05
p 1.0e-15
N 450,015
Large GWAS
multi-ancestry

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.06
p 2.0e-15
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry

triglycerides to total lipids in large LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.05
p 2.0e-15
N 450,015
Large GWAS
multi-ancestry
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ClinVar annotation

Likely Benign★★★☆
16 submitters40 publications

Maturity onset diabetes mellitus in young (MODY); Maturity-onset diabetes of the young type 3; Monogenic diabetes; Nonpapillary renal cell carcinoma; Ovarian cancer; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4α, GCK and HNF-1α
AssociationN=263Pruhova S. et al.(2003)· Diabetologia

Genetic screening of 61 Czech MODY families identified 20 mutations in HNF-4α, GCK, and HNF-1α genes in 48% of families (5% MODY1, 31% MODY2, 11.5% MODY3 prevalence). Seventy percent of identified mutations were novel, including Arg125Trp and Val121Ile in HNF-4α, Glu40Lys and Gly44Asp in GCK, and Arg200Gly in HNF-1α, suggesting that most MODY mutations in this Central European population are local variants.

Traits studied:Diabetes mellitusHyperglycemiaMaturity Onset Diabetes of the Young (MODY)
PubMedDOIMetascience Observatory

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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