rs2244608
This is a intron variant variant in the HNF1A gene.
▶GWAS Catalog Trait Associations (56)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (56)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
C-reactive protein 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 G
OR 0.14
p —
N 355,127
Major Consortium StudyLarge GWAS
multi-ancestry
serum gamma-glutamyl transferase 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 G
OR 0.12
p —
N 355,690
Major Consortium StudyLarge GWAS
multi-ancestry
alkaline phosphatase 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 G
OR 0.06
p 3.0e-111
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry
total cholesterol 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 G
OR 0.04
p 2.0e-55
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.03
p 4.0e-19
N 219,941
Large GWAS
multi-ancestry
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele G
OR 0.03
p 2.0e-17
N 136,016
Large GWAS
multi-ancestry
low density lipoprotein cholesterol 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 G
OR 0.04
p 2.0e-49
N 355,197
Major Consortium StudyLarge 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 G
OR 0.03
p 1.0e-28
N 404,687
Major Consortium StudyLarge GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele G
OR 0.03
p 1.0e-11
N 136,016
Large GWAS
multi-ancestry
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele G
OR 1.66
p 3.0e-11
N 127,326
Large GWAS
multi-ancestry
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele G
OR 0.05
p 1.0e-10
N 38,000
Large GWAS
South Asian
cystatin C 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 G
OR 0.03
p 4.0e-38
N 355,752
Major Consortium StudyLarge GWAS
multi-ancestry
apolipoprotein B 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 G
OR 0.03
p 2.0e-36
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry
thyroxine-binding globulin measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.07
p 3.0e-29
N 47,745
Large GWAS
European
low density lipoprotein cholesterol measurement, alcohol drinking
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele G
OR —
p 2.0e-28
N 127,326
Large GWAS
multi-ancestry
blood urea nitrogen amount
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 A
OR 0.03
p 3.0e-28
N 418,135
Major Consortium StudyLarge GWAS
European
▶ClinVar annotation
Benign★★★☆
3 submitters5 publicationsMaturity onset diabetes mellitus in young (MODY)
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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