rs1801270
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | increased risk for lung cancer | |
| (A;C) | increased risk for lung cancer | |
| (C;C) | 0 | normal risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 36684194 |
| Gene | CDKN1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801270 |
| dbSNP (classic) | rs1801270 |
| ClinGen | rs1801270 |
| ebi | rs1801270 |
| HLI | rs1801270 |
| Exac | rs1801270 |
| Gnomad | rs1801270 |
| Varsome | rs1801270 |
| LitVar | rs1801270 |
| Map | rs1801270 |
| PheGenI | rs1801270 |
| Biobank | rs1801270 |
| 1000 genomes | rs1801270 |
| hgdp | rs1801270 |
| ensembl | rs1801270 |
| geneview | rs1801270 |
| scholar | rs1801270 |
| rs1801270 | |
| pharmgkb | rs1801270 |
| gwascentral | rs1801270 |
| openSNP | rs1801270 |
| 23andMe | rs1801270 |
| SNPshot | rs1801270 |
| SNPdbe | rs1801270 |
| MSV3d | rs1801270 |
| GWAS Ctlg | rs1801270 |
| GMAF | 0.247 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
rs1801270 is a SNP known as p21 codon 31, although the gene now known to code for the p21 protein is termed CDKN1A, and has also been known as WAF1 and CIP1. Along with p53 codon 72 (rs1042522), it is one of the best studied SNPs due to its role in increased tumor susceptibility (and thus cancer).
A study of ~150 lung cancer patients in Sweden found that the rs1801279(A) allele, encoding the amino acid Arg at codon 31, represented the risk allele (odds ratio 1.7, CI: 1.0-2.9), compared to healthy individuals. The difference was even more striking when compared to patients with chronic obstructive pulmonary disease (COPD), in which case the odds ratio was over 5.[PMID 8807325]
[PMID 19505915] Association of Genetic Polymorphisms, mRNA Expression of p53 and p21 with Chronic Benzene Poisoning in a Chinese Occupational Population
[PMID 20126416
] Identification of single nucleotide polymorphisms in the p21 (CDKN1A) gene and correlations with longevity in the Italian population
| ClinVar | |
|---|---|
| Risk | Rs1801270(A;A) rs1801270(T;T) |
| Alt | Rs1801270(A;A) rs1801270(T;T) |
| Reference | Rs1801270(C;C) |
| Significance | Non-pathogenic |
| Disease | CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1 |
| Variation | info |
| Gene | CDKN1A |
| CLNDBN | CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.36651971C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019125.2, |
[PMID 15878916] Genetic polymorphisms of p21 are associated with risk of squamous cell carcinoma of the head and neck.
[PMID 16111488] Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
[PMID 17293864] A common coding variant in CASP8 is associated with breast cancer risk.
[PMID 17459456] A common variant of the p16(INK4a) genetic region is associated with physical function in older people.
[PMID 18174243] Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 19224585] Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic.
[PMID 19237173] Bcl2 -938C/A polymorphism carries increased risk of biochemical recurrence after radical prostatectomy.
[PMID 19258477] Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.
[PMID 19367277] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.
[PMID 19750108] Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect.
[PMID 20127253] The role of TP53 and p21 gene polymorphisms in breast cancer biology in a well specified and characterized German cohort.
[PMID 20433229] P21(waf1/cip1) gene polymorphisms and possible interaction with cigarette smoking in esophageal squamous cell carcinoma in northeastern Iran: a preliminary study.
[PMID 20452958] Single-nucleotide polymorphisms in the p53 signaling pathway.
[PMID 20979563] MDM2 and CDKN1A gene polymorphisms and risk of Kaposi's sarcoma in African and Caucasian patients.
[PMID 23231583] Association of p21 SNPs and risk of cervical cancer among Chinese women
[PMID 25565272] Polymorphisms of cell cycle control genes influence the development of sporadic medullary thyroid carcinoma
