rs1169288
| Orientation | minus |
| Stabilized | minus |
| Make rs1169288(G;G) |
| Make rs1169288(G;T) |
| Make rs1169288(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 120978847 |
| Gene | HNF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1169288 |
| dbSNP (classic) | rs1169288 |
| ClinGen | rs1169288 |
| ebi | rs1169288 |
| HLI | rs1169288 |
| Exac | rs1169288 |
| Gnomad | rs1169288 |
| Varsome | rs1169288 |
| LitVar | rs1169288 |
| Map | rs1169288 |
| PheGenI | rs1169288 |
| Biobank | rs1169288 |
| 1000 genomes | rs1169288 |
| hgdp | rs1169288 |
| ensembl | rs1169288 |
| geneview | rs1169288 |
| scholar | rs1169288 |
| rs1169288 | |
| pharmgkb | rs1169288 |
| gwascentral | rs1169288 |
| openSNP | rs1169288 |
| 23andMe | rs1169288 |
| SNPshot | rs1169288 |
| SNPdbe | rs1169288 |
| MSV3d | rs1169288 |
| GWAS Ctlg | rs1169288 |
| GMAF | 0.2998 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs1169288 (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
] minor alleles of rs1169288, rs1169286, rs2464196, rs1169310 constitutes a common haplotype (freq. 30%) associated with lower CRP levels
| GWAS snp | |
|---|---|
| PMID | [PMID 22010049]
|
| Trait | |
| Title | Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations. |
| Risk Allele | G |
| P-val | 2E-18 |
| Odds Ratio | 0.1320 None |
| GWAS snp | |
|---|---|
| PMID | [PMID 20686565]
|
| Trait | |
| Title | Biological, clinical and population relevance of 95 loci for blood lipids. |
| Risk Allele | C |
| P-val | 1E-15 |
| Odds Ratio | 1.4200 None |
| ClinVar | |
|---|---|
| Risk | rs1169288(G;G) |
| Alt | rs1169288(G;G) |
| Reference | rs1169288(T;T) |
| Significance | Other |
| Disease | Insulin resistance SERUM HDL CHOLESTEROL LEVEL not specified Maturity-onset diabetes of the young |
| Variation | info |
| Gene | HNF1A |
| CLNDBN | Insulin resistance, susceptibility to SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF not specified Maturity-onset diabetes of the young |
| Reversed | 1 |
| HGVS | NC_000012.11:g.121416650A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016074.3, RCV000016075.27, RCV000117233.6, RCV000401319.1, |
[PMID 18332101] Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes.
[PMID 18498634] The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19490620] HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study.
[PMID 20031592] 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.
[PMID 20416077] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
[PMID 21094359] 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 21195701] Effect of obesity on the association between common variations in the HNF1A gene region and C-reactive protein level in Taiwanese.
[PMID 21647738] 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.
[PMID 22569176] MALDI-TOF mass spectrometry screening of cholelithiasis risk markers in the gene of HNF1alpha.
| GWAS snp | |
|---|---|
| PMID | [PMID 24097068]
|
| Trait | Cholesterol, total |
| Title | Discovery and refinement of loci associated with lipid levels. |
| Risk Allele | C |
| P-val | 4E-17 |
| Odds Ratio | .03 [NR] unit increase |
[PMID 26209006] Associations of lipid levels susceptibility loci with coronary artery disease in Chinese population
[PMID 31109344] HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey.
