{{Rsnum
|rsid=2464196
|Gene=HNF1A
|Chromosome=12
|position=120997624
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3283
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=HNF1A
}}[[rs2464196]] is a SNP that was originally associated with C-reactive protein levels, and given other findings that suggest C-reactive protein levels may be predictive of cancer risk, was thought to be linked to cancer risk.

A large study pooling data from 3 Finnish studies totaling over 18,000 individuals concluded that while this SNP is not likely to be causative (relative to cancer), it and one other CRP SNP ([[rs1169300]]) are associated with increased risk for [[lung cancer]]. The odds ratio for minor alleles of either SNP was about 1.5x and 2x for heterozygotes and homozygotes, respectively. One other CRP SNP ([[rs1892534]]) was associated with increased overall [[cancer]] risk.  CRP SNPs were not associated with colorectal, prostate or breast cancer risk.{{PMID|20727736}}

{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 47.3 | 45.5 | 7.1
| HCB | 23.4 | 57.7 | 19.0
| JPT | 11.5 | 53.1 | 35.4
| YRI | 81.9 | 16.7 | 1.4
| ASW | 73.7 | 26.3 | 0.0
| CHB | 23.4 | 57.7 | 19.0
| CHD | 32.1 | 46.8 | 21.1
| GIH | 35.6 | 44.6 | 19.8
| LWK | 75.9 | 22.2 | 1.9
| MEX | 48.3 | 37.9 | 13.8
| MKK | 76.1 | 22.6 | 1.3
| TSI | 44.6 | 44.6 | 10.9
| HapMapRevision=28
}}

{{Venter SNP
|rsid=2464196
|allele=A
|frequency=0.283
|uid=1103649555017
|type=heterozygous_SNP
|hugo=TCF1
|ensembl gene=ENSG00000135100
|ensembl transcript=ENST00000257555
|sift=TOLERATED
|disease=Defects in TCF1 are a cause of susceptibility to insulin- dependent diabetes mellitus (IDDM) (MIM:222100).
}}

{{PharmGKB
|RSID=rs2464196
|Name_s=HNF1A:Ser486Asp
|Gene_s=HNF1A
|Feature=
|Evidence=PubMed ID:18439552
|Annotation=In a candidate gene-based association analysis of 4333 European-descended, age 65 or older, subjects from the CHS (Cardiovascular Health Study), this was one of the SNPs most strongly associated with plasma C-reactive protein levels. The minor allele is part of a haplotype of frequency 30% which was associated with lower levels of CRP.
|Drugs=
|Drug Classes=
|Diseases=Cardiovascular Diseases
|Curation Level=Curated
|PharmGKB Accession ID=PA162411157
}}

{{PMID Auto
|PMID=18439548
|Title=Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=18940312
|Title=Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
|OA=1
}}

{{PMID Auto
|PMID=19490620
|Title=HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study.
|OA=1
}}

{{PMID Auto
|PMID=20031592
|Title=Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiovascular Health Study.
|OA=1
}}

{{PMID Auto
|PMID=20416077
|Title=Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
|OA=1
}}

{{PMID Auto
|PMID=21195701
|Title=Effect of obesity on the association between common variations in the HNF1A gene region and C-reactive protein level in Taiwanese.
}}

{{PMID Auto
|PMID=21647738
|Title=Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.
|OA=1
}}

{{GET Evidence
|gene=HNF1A
|aa_change=Ser487Asn
|aa_change_short=S487N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2464196
|overall_frequency_n=2651
|overall_frequency_d=10758
|overall_frequency=0.246421
|n_genomes=17
|n_genomes_annotated=0
|n_haplomes=19
|n_articles=2
|n_articles_annotated=2
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=10
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}