rs2464196
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 1.5 | ~1.5x increased lung cancer risk |
| (T;T) | 2 | ~2x increased lung cancer risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 120997624 |
| Gene | HNF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2464196 |
| dbSNP (classic) | rs2464196 |
| ClinGen | rs2464196 |
| ebi | rs2464196 |
| HLI | rs2464196 |
| Exac | rs2464196 |
| Gnomad | rs2464196 |
| Varsome | rs2464196 |
| LitVar | rs2464196 |
| Map | rs2464196 |
| PheGenI | rs2464196 |
| Biobank | rs2464196 |
| 1000 genomes | rs2464196 |
| hgdp | rs2464196 |
| ensembl | rs2464196 |
| geneview | rs2464196 |
| scholar | rs2464196 |
| rs2464196 | |
| pharmgkb | rs2464196 |
| gwascentral | rs2464196 |
| openSNP | rs2464196 |
| 23andMe | rs2464196 |
| SNPshot | rs2464196 |
| SNPdbe | rs2464196 |
| MSV3d | rs2464196 |
| GWAS Ctlg | rs2464196 |
| GMAF | 0.3283 |
| Max Magnitude | 2 |
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]
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 18439548
] Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.
[PMID 18940312] Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
[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 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.
| ClinVar | |
|---|---|
| Risk | Rs2464196(T;T) |
| Alt | Rs2464196(T;T) |
| Reference | Rs2464196(C;C) |
| Significance | Other |
| Disease | not specified Maturity-onset diabetes of the young |
| Variation | info |
| Gene | HNF1A |
| CLNDBN | not specified Maturity-onset diabetes of the young |
| Reversed | 1 |
| HGVS | NC_000012.11:g.121435427G>A |
| CLNSRC | ClinVar GeneDx University of Chicago |
| CLNACC | RCV000117227.6, RCV000320780.1, |
[PMID 31109344] HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey.
