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rs1801270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) increased risk for lung cancer
(A;C) increased risk for lung cancer
(C;C) 0 normal risk
ReferenceGRCh38 38.1/141
Chromosome6
Position36684194
GeneCDKN1A
is asnp
is mentioned by
dbSNPrs1801270
ebirs1801270
HLIrs1801270
Exacrs1801270
Varsomers1801270
Maprs1801270
PheGenIrs1801270
hapmaprs1801270
1000 genomesrs1801270
hgdprs1801270
ensemblrs1801270
gopubmedrs1801270
geneviewrs1801270
scholarrs1801270
googlers1801270
pharmgkbrs1801270
gwascentralrs1801270
openSNPrs1801270
23andMers1801270
23andMe allrs1801270
SNP Nexus

SNPshotrs1801270
SNPdbers1801270
MSV3drs1801270
GWAS Ctlgrs1801270
GMAF0.247
Max Magnitude0
? (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]

OMIM116899
DescCIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1
Variant0001
Relatedalso


[PMID 19505915] Association of Genetic Polymorphisms, mRNA Expression of p53 and p21 with Chronic Benzene Poisoning in a Chinese Occupational Population


[PMID 20126416OA-icon.png] Identification of single nucleotide polymorphisms in the p21 (CDKN1A) gene and correlations with longevity in the Italian population


ClinVar
Risk rs1801270(A;A)
Alt rs1801270(A;A)
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
CLNACC RCV000019125.2,



[PMID 15878916] Genetic polymorphisms of p21 are associated with risk of squamous cell carcinoma of the head and neck.


[PMID 16111488OA-icon.png] 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 17459456OA-icon.png] A common variant of the p16(INK4a) genetic region is associated with physical function in older people.


[PMID 18174243OA-icon.png] Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population.


[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.


[PMID 18805939OA-icon.png] 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 19258477OA-icon.png] Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.


[PMID 19367277OA-icon.png] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.


[PMID 19750108OA-icon.png] 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 20452958OA-icon.png] 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.


GET Evidence
CDKN1A-S31R
aa_change Ser31Arg
aa_change_short S31R
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.132645
summary Appears to be involved in tumor development, based on frequency of variant in tumor cell lines.



[PMID 23231583OA-icon.png] 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