rs8034191
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.6 | 1.80x lung cancer risk; decreased response to alcohol |
| (C;T) | 2.5 | 1.27x lung cancer risk |
| (T;T) | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 78513681 |
| Gene | HYKK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8034191 |
| dbSNP (classic) | rs8034191 |
| ClinGen | rs8034191 |
| ebi | rs8034191 |
| HLI | rs8034191 |
| Exac | rs8034191 |
| Gnomad | rs8034191 |
| Varsome | rs8034191 |
| LitVar | rs8034191 |
| Map | rs8034191 |
| PheGenI | rs8034191 |
| Biobank | rs8034191 |
| 1000 genomes | rs8034191 |
| hgdp | rs8034191 |
| ensembl | rs8034191 |
| geneview | rs8034191 |
| scholar | rs8034191 |
| rs8034191 | |
| pharmgkb | rs8034191 |
| gwascentral | rs8034191 |
| openSNP | rs8034191 |
| 23andMe | rs8034191 |
| SNPshot | rs8034191 |
| SNPdbe | rs8034191 |
| MSV3d | rs8034191 |
| GWAS Ctlg | rs8034191 |
| GMAF | 0.2084 |
| Max Magnitude | 2.6 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
23andMe blog rs8034191(C;C) decreased response to alcohol
| Rs8034191 | |
|---|---|
| PubMed | [PMID 18385738] |
| Affy Probeset | SNP_A-8656206 |
| Affy Orientation | reverse |
| On GW 5.0 | |
| Alleles A/B | A/G |
| Ancestral | T |
| Population | Caucasian(Europe) |
| Allele | C |
| Case Freq. | 0.41 |
| Control Freq. | 0.34 |
| Odds Ratio Het | 1.27 |
| Odds Ratio Hom | 1.80 |
| Odds Ratio All | 1.32 |
| Disease | Lung cancer (LC) |
rs8034191 increases susceptibility to Lung cancer 1.27 times for heterozygotes (CT) and 1.80 times for homozygotes (CC) [PMID 18385738]
rs8034191 increases susceptibility to Lung cancer 1.28 times for heterozygotes (CT) and 1.81 times for homozygotes (CC) [PMID 18385676
]
| GWAS | |
|---|---|
| SNP | rs8034191 |
| PubMedID | [PMID 18385738] |
| Condition | Lung cancer |
| Gene | CHRNA3,CHRNA5, CHRNB4, PSMA4, LOC123688 |
| Risk Allele | C |
| pValue | 5.00E-020 |
| OR | 1.3 |
| 95% CI | 1.23-1.37 |
[PMID 19300482
] A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci.
| GWAS snp | |
|---|---|
| PMID | [PMID 18780872 |
| Trait | Lung cancer |
| Title | Familial Aggregation of Common Sequence Variants on 15q24-25.1 in Lung Cancer |
| Risk Allele | G |
| P-val | 1E-8 |
| Odds Ratio | 1.38 [1.17-1.64] |
[PMID 19465454] The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung
[PMID 19641473
] Racial Differences in the Association Between SNPs on 15q25.1, Smoking Behavior, and Risk of Non-small Cell Lung Cancer
[PMID 19654303
] Deciphering the Impact of Common Genetic Variation on Lung Cancer Risk: A Genome-Wide Association Study
[PMID 19733931] Blood-based CHRNA3 single nucleotide polymorphism and outcome in advanced non-small-cell lung cancer patients
[PMID 20056643
] A rigorous and comprehensive validation: common genetic variations and lung cancer
[PMID 20068085
] Analysis of Genetic Variants in Never-Smokers with Lung Cancer Facilitated by an Internet-Based Blood Collection Protocol: A Preliminary Report
[PMID 20554942
] Nicotinic Acetylcholine Receptor Region on Chromosome 15q25 and Lung Cancer Risk Among African Americans: A Case-Control Study
[PMID 21750227] Single-nucleotide polymorphisms (5p15.33, 15q25.1, 6p22.1, 6q27 and 7p15.3) and lung cancer survival in the European Prospective Investigation into Cancer and Nutrition (EPIC)
[PMID 21966413
] Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population
[PMID 18759969
] In search of causal variants: refining disease association signals using cross-population contrasts.
[PMID 18957677
] The CHRNA5-A3 region on chromosome 15q24-25.1 is a risk factor both for nicotine dependence and for lung cancer.
[PMID 19029397
] Nicotinic receptor gene variants influence susceptibility to heavy smoking.
[PMID 19064933
] Chromosome 15q25.1 genetic markers associated with level of response to alcohol in humans.
[PMID 19247474
] Genome-wide and candidate gene association study of cigarette smoking behaviors.
[PMID 19259974
] Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
[PMID 19300500
] A genome-wide association study of pulmonary function measures in the Framingham Heart Study.
[PMID 19474294
] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19639606
] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.
[PMID 19706762
] The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans.
[PMID 19800047
] Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene.
[PMID 19836008
] A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
[PMID 20010835
] Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
[PMID 20548021
] Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.
[PMID 21081471
] Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.
[PMID 21232152
] Epidemiology, radiology, and genetics of nicotine dependence in COPD.
[PMID 21320324
] The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.
[PMID 21697764
] Susceptibility locus for lung cancer at 15q25.1 is not associated with risk of pancreatic cancer.
[PMID 21810735] Single nucleotide polymorphisms in CHRNA5 rs16969968, CHRNA3 rs578776, and LOC123688 rs8034191 are associated with heaviness of smoking in women in Northeastern Ontario, Canada.
[PMID 22017462] Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: effects on bronchial hyperresponsiveness in children.
[PMID 22028403
] A case-control study of a sex-specific association between a 15q25 variant and lung cancer risk.
[PMID 22701590
] Strong association between two polymorphisms on 15q25.1 and lung cancer risk: a meta-analysis
[PMID 24254305] Quantitative assessment of the influence of common variations (rs8034191 and rs1051730) at 15q25 and lung cancer risk
[PMID 22914670] Association of IREB2 and CHRNA3/5 polymorphisms with COPD and COPD-related phenotypes in a Chinese Han population.
[PMID 23299987
] Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility.
[PMID 25051068
] Four SNPs in the CHRNA3/5 Alpha-Neuronal Nicotinic Acetylcholine Receptor Subunit Locus Are Associated with COPD Risk Based on Meta-Analyses
[PMID 25074529] Genetic Association Between AGPHD1 Variant and Lung Cancer Risk
[PMID 25854352] Meta-Analysis of the Association between the rs8034191 Polymorphism in AGPHD1 and Lung Cancer Risk
- Is a snp
- In dbSNP
- SNPs on chromosome 15
- Has genotype
- Has population
- Has Report GE
- GWAS
- Uses omim
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Ancestry v2
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip 23andMe v5
- On chip Ancestry v2c
- On chip Ancestry v2d
