rs3731217, CDKN2A

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
0.700 GeneticVariation GWASCAT Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. 29632299 2018
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
0.700 GeneticVariation GWASCAT Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. 23996088 2013
Childhood Acute Lymphoblastic Leukemia
0.050 GeneticVariation BEFREE Here, we conducted a systematic review and meta-analysis to re-evaluate the association of both SNPs (rs3731217 and rs3731249) with ALL susceptibility by gathering the data from 24 independent studies, totally containing 7922 cases/21503 controls for rs3731217 and 6295 cases/24191 controls for rs3731249. 29654170 2018
Childhood Acute Lymphoblastic Leukemia
0.050 GeneticVariation BEFREE No associations were found between the IKZF1 SNPs (rs11978267; rs7789635), DDC SNPs (rs3779084; rs880028; rs7809758), CDKN2A SNP (rs3731217), the CEBPE SNPs (rs2239633; rs12434881) and LMO1 SNPs (rs442264; rs3794012; rs4237770) with ALL in Yemeni children. 28768142 2017
Childhood Acute Lymphoblastic Leukemia
0.050 GeneticVariation BEFREE These SNPs are located at CDKN2A (rs3731217) and IKZF1 (rs4132601), genes frequently lost in ALL, and at CEBPE (rs2239633), ARID5B (rs7089424), PIP4K2A (rs10764338), and GATA3 (rs3824662), genes located on chromosomes gained in high-hyperdiploid ALL. 26575185 2015
Childhood Acute Lymphoblastic Leukemia
0.050 GeneticVariation BEFREE To explore the impact of these variants on ALL risk in the Thai population, we genotyped 190 cases of ALL and 182 controls for SNPs rs4132601 (7p12.2), rs3731217 (9p21.3), rs7089424 and rs10821938 (10q21.2), and rs2239633 (14q11.2). 20919861 2010
Childhood Acute Lymphoblastic Leukemia
0.050 GeneticVariation BEFREE Using data from a genome-wide association study of 907 individuals with childhood acute lymphoblastic leukemia (cases) and 2,398 controls and with validation in samples totaling 2,386 cases and 2,419 controls, we have shown that common variation at 9p21.3 (rs3731217, intron 1 of CDKN2A) influences acute lymphoblastic leukemia risk (odds ratio = 0.71, P = 3.01 x 10(-11)), irrespective of cell lineage. 20453839 2010
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE Here, we conducted a systematic review and meta-analysis to re-evaluate the association of both SNPs (rs3731217 and rs3731249) with ALL susceptibility by gathering the data from 24 independent studies, totally containing 7922 cases/21503 controls for rs3731217 and 6295 cases/24191 controls for rs3731249. 29654170 2018
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE No associations were found between the IKZF1 SNPs (rs11978267; rs7789635), DDC SNPs (rs3779084; rs880028; rs7809758), CDKN2A SNP (rs3731217), the CEBPE SNPs (rs2239633; rs12434881) and LMO1 SNPs (rs442264; rs3794012; rs4237770) with ALL in Yemeni children. 28768142 2017
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE Using data from a genome-wide association study of 907 individuals with childhood acute lymphoblastic leukemia (cases) and 2,398 controls and with validation in samples totaling 2,386 cases and 2,419 controls, we have shown that common variation at 9p21.3 (rs3731217, intron 1 of CDKN2A) influences acute lymphoblastic leukemia risk (odds ratio = 0.71, P = 3.01 x 10(-11)), irrespective of cell lineage. 20453839 2010
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.020 GeneticVariation BEFREE Here, we conducted a systematic review and meta-analysis to re-evaluate the association of both SNPs (rs3731217 and rs3731249) with ALL susceptibility by gathering the data from 24 independent studies, totally containing 7922 cases/21503 controls for rs3731217 and 6295 cases/24191 controls for rs3731249. 29654170 2018
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.020 GeneticVariation BEFREE No associations were found between the IKZF1 SNPs (rs11978267; rs7789635), DDC SNPs (rs3779084; rs880028; rs7809758), CDKN2A SNP (rs3731217), the CEBPE SNPs (rs2239633; rs12434881) and LMO1 SNPs (rs442264; rs3794012; rs4237770) with ALL in Yemeni children. 28768142 2017
Hyperdiploid B Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE These SNPs are located at CDKN2A (rs3731217) and IKZF1 (rs4132601), genes frequently lost in ALL, and at CEBPE (rs2239633), ARID5B (rs7089424), PIP4K2A (rs10764338), and GATA3 (rs3824662), genes located on chromosomes gained in high-hyperdiploid ALL. 26575185 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE We determined tumor HPV16 status and expression of p14/p53 and genotyped p14 (ARF) -rs3731217 and -rs3088440 polymorphisms in 552 incident SCCOP patients. 24104554 2014
Squamous cell carcinoma of oropharynx
0.010 GeneticVariation BEFREE Multivariable analysis found that patients with p14 (ARF) -rs3731217 TT genotype had an ~7-, 11- and 3-fold increased risk for death overall, death due to SCCOP and recurrence than those with TG/GG variant genotypes, respectively. 24104554 2014
Differentiated Thyroid Gland Carcinoma
0.010 GeneticVariation BEFREE MDM2-rs2279744 and p14(ARF)-rs3731217 were associated with a significantly increased risk of DTC (MDM2-rs2279744: TT versus TG/GG; OR, 1.5; 95% CI, 1.1-2.0; p14(ARF)-rs3731217: TG/GG versus TT; OR, 1.7; 95% CI, 1.2-2.3). 23218882 2013
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 GeneticVariation BEFREE Compared with the p14(ARF) thymine-thymine (TT) and guanine-guanine (GG) genotypes, the variant genotypes of p14(ARF) TG/GG and guanine-adenine (GA)/AA were associated with a significantly moderately increased risk of developing an SPM (p14(ARF) rs3731217: adjusted hazard ratio [aHR], 1.48; 95% confidence interval [CI], 1.00-2.19; p14(ARF) rs3088440: aHR, 1.61; 95% CI, 1.07-2.43). 21381012 2011
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 GeneticVariation BEFREE Using data from a genome-wide association study of 907 individuals with childhood acute lymphoblastic leukemia (cases) and 2,398 controls and with validation in samples totaling 2,386 cases and 2,419 controls, we have shown that common variation at 9p21.3 (rs3731217, intron 1 of CDKN2A) influences acute lymphoblastic leukemia risk (odds ratio = 0.71, P = 3.01 x 10(-11)), irrespective of cell lineage. 20453839 2010