SNP information rs3731249

Research and publications:

  8603820   Cancer-associated mis-sense and deletion mutations impair p16INK4 CDK inhibitory activity.

  15705881   CDKN2A common variants and their association with melanoma risk: a population-based study.

  17459456   A common variant of the p16(INK4a) genetic region is associated with physical function in older people.

  18174243   Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population.

  18281541   Effects of common germ-line genetic variation in cell cycle genes on ovarian cancer survival.

  18761660   Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3.

  19224585   Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic.

  19258477   Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.

  19826048   Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran

  20386740   Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.

  20455025   Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation.

  21204206   Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population

  21462282   Classifying variants of CDKN2A using computational and laboratory studies.

  22703879   Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

  24171766   Common low-penetrance risk variants associated with breast cancer in Polish women.

  24218030   Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach.

  24728327   Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  26104880   Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children.

  26463672   The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A.

  26527286   A Heritable Missense Polymorphism in CDKN2A Confers Strong Risk of Childhood Acute Lymphoblastic Leukemia and Is Preferentially Selected during Clonal Evolution.

  27694927   A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1.

  28466822   The effects of CDKN2A rs3731249, rs11515, and rs3088440 polymorphisms on cancer risk.

  28481918   Confirmation of involvement of new variants at CDKN2A/B in pediatric acute lymphoblastic leukemia susceptibility in the Spanish population.

  29458332   Identification of genetic variants for clinical management of familial colorectal tumors.

  29654170   Association of the independent polymorphisms in CDKN2A with susceptibility of acute lymphoblastic leukemia.

  31134135   Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.

  31350265   Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome.

  35001307   Analysis of the Frequency of 10 Polymorphic Markers of CDKN2A and RB1 Genes in Russian Populations.

  35124268   Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19.

  35932035   Association of IKZF1 and CDKN2A gene polymorphisms with childhood acute lymphoblastic leukemia: a high-resolution melting analysis.