{{Rsnum
|rsid=1169288
|Gene=HNF1A
|Chromosome=12
|position=120978847
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.2998
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=HNF1A
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 6.2 | 41.5 | 52.3
| HCB | 20.0 | 53.3 | 26.7
| JPT | 36.4 | 50.0 | 13.6
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 20.0 | 53.3 | 26.7
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
[[rs6323]] (Ile27Leu) is a SNP in located within the [[HNF1A]] (Hepatocyte nuclear factor 1 homeobox A) gene. The C allele encodes for the Leu variant.

{{PMID|12788852}} among 356 unrelated Japanese men, lower HDL cholesterol was observed in those with the Ile/Ile genotype (and higher in the Leu/Leu genotype)

{{PMID|18439552|OA=1
}} minor alleles of [[rs1169288]], [[rs1169286]], [[rs2464196]], [[rs1169310]]  constitutes a common haplotype (freq. 30%) associated with lower CRP levels
{{omim
|desc=INSULIN RESISTANCE, SUSCEPTIBILITY TO
|id=142410
|rsnum=1169288
|variant=0011
}}

{{PharmGKB
|RSID=rs1169288
|Name_s=HNF1A:Ile27Leu
|Gene_s=TCF1
|Feature=Exon/NonSyn
|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=PA162411156
}}

{{PMID Auto GWAS
|PMID=22010049
|Trait=None
|Title=Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.
|RiskAllele=G
|Pval=2E-18
|OR=0.1320
|ORtxt=None
|OA=1
}}

{{PMID Auto GWAS
|PMID=20686565
|Trait=None
|Title=Biological, clinical and population relevance of 95 loci for blood lipids.
|RiskAllele=C
|Pval=1E-15
|OR=1.4200
|ORtxt=None
|OA=1
}}

{{ClinVar
|rsid=1169288
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=121416650
|CHROM=12
|GMAF=0.2995
|dbSNPBuildID=87
|SSR=0
|SAO=1
|VP=0x050178000000170517130100
|GENEINFO=HNF1A:6927
|GENE_NAME=HNF1A
|GENE_ID=6927
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.121416650A>C
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;TPA;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.7002; 0.2998
|CLNACC=RCV000016074.1; RCV000016075.24
|CLNDBN=Insulin resistance, susceptibility to; Serum hdl cholesterol level, modifier of
|CLNDSDB=MedGen
|CLNDSDBID=C1852091
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=142410.0011
|COMMON=1
|Disease=Insulin resistance; Serum hdl cholesterol level
}}

{{PMID Auto
|PMID=18332101
|Title=Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes.
}}

{{PMID Auto
|PMID=18498634
|Title=The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|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=21094359
|Title=Effect of central obesity, low high-density lipoprotein cholesterol and C-reactive protein polymorphisms on C-reactive protein levels during treatment with Rosuvastatin (10 mg Daily).
}}

{{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
}}

{{PMID Auto
|PMID=22569176
|Title=MALDI-TOF mass spectrometry screening of cholelithiasis risk markers in the gene of HNF1alpha.
}}

{{GET Evidence
|gene=HNF1A
|aa_change=Ile27Leu
|aa_change_short=I27L
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1169288
|overall_frequency_n=2794
|overall_frequency_d=10752
|overall_frequency=0.259859
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=24
|n_articles=1
|n_articles_annotated=1
|gene_in_genetests=Y
|in_omim=Y
|in_pharmgkb=Y
|genetests_testable=Y
|nblosum100=-2
|autoscore=3
|webscore=N
|n_web_uneval=9
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}