CDKN2B, cyclin dependent kinase inhibitor 2B, 1030

N. diseases: 440; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C1611184
Disease:
Calcification of coronary artery
0.700 GeneticVariation GWASDB Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. 22144573 2011
dbSNP: rs1423790481
rs1423790481
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.700 GeneticVariation UNIPROT
dbSNP: rs1063192
rs1063192
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.050 GeneticVariation BEFREE Stratification analysis by type of glaucoma revealed that rs1063192 polymorphism conferred a protective factor of primary open-angle glaucoma (POAG) and non-POAG. 28416752 2017
dbSNP: rs1063192
rs1063192
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.050 GeneticVariation BEFREE Polymorphism rs1063192 in CDKN2B is not a risk factor for POAG in Saudi cohort. 27541204 2016
dbSNP: rs1063192
rs1063192
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.050 GeneticVariation BEFREE In addition to confirmation of the association of the chromosome 9p21 locus [rs1063192, P= 5.2 × 10(-11), odds ratio (OR) = 0.75], and 14q23 (rs10483727, P = 9.49 × 10(-8), OR = 0.79) with POAG in Caucasians reported recently, we identified a suggestive-associated locus on 2q21 (rs7588567, P = 3.89 × 10(-7), OR = 0.85). 22419738 2012
dbSNP: rs1063192
rs1063192
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.050 GeneticVariation BEFREE However, a significant interactive effect on POAG risk was identified between rs1063192</span> and rs7916697 (P-interaction = 2.80 × 10(-5)). 22761751 2012
dbSNP: rs1063192
rs1063192
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.050 GeneticVariation BEFREE SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were also associated with POAG (P = 0.0006 and P = 0.0043 for rs1063192 and rs10483727, respectively). rs1063192, associated with smaller VCDR, had a protective effect (odds ratio [OR] = 0.73; 95% confidence interval [CI], 0.58-0.90), whereas rs10483727, associated with larger VCDR, increased POAG risk (OR = 1.33; 95% CI, 1.08-1.65). 21398277 2011
dbSNP: rs1063192
rs1063192
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0152136
Disease:
Low Tension Glaucoma
0.020 GeneticVariation BEFREE In addition, methylation at CpG sites in CDKN2B was also associated with genotype at rs1063192, which is known to confer risk for NTG. 29265947 2018
dbSNP: rs1063192
rs1063192
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0152136
Disease:
Low Tension Glaucoma
0.020 GeneticVariation BEFREE The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG, and the rs1547014 (CHEK2) is a genetic risk factor for HTG. 22584021 2012
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE ANRIL polymorphisms (rs1333049 and rs3217992) in relation to plasma CRP levels among in-patients with CHD. 31770616 2020
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE RESULTS An allele of the SNP rs3217992 is predictive for susceptibility to osteos</span>arcoma, and it is associated with poorer prognosis of osteos</span>arcoma. 30774116 2019
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE In addition, our results demonstrated that the rs944796 G allele, rs2518723 T allele, rs3217992 T allele frequencies were significantly associated with anti-CCP in RA patients (all <i>P</i> < 0.05). 31736958 2019
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0585442
Disease:
Osteosarcoma of bone
0.010 GeneticVariation BEFREE RESULTS An allele of the SNP rs3217992 is predictive for susceptibility to osteos</span>arcoma, and it is associated with poorer prognosis of osteos</span>arcoma. 30774116 2019
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0029463
Disease:
Osteosarcoma
0.010 GeneticVariation BEFREE RESULTS An allele of the SNP rs3217992 is predictive for susceptibility to osteos</span>arcoma, and it is associated with poorer prognosis of osteos</span>arcoma. 30774116 2019
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0153676
Disease:
Secondary malignant neoplasm of lung
0.010 GeneticVariation BEFREE In addition, the GA and AA genotypes of rs3217992 in CDKN2A might indicate higher stage and increased risk of lung metastasis of osteosarcoma, resulting in worse prognosis. 30774116 2019
dbSNP: rs1063192
rs1063192
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0278876
Disease:
Adult Medulloblastoma
0.010 GeneticVariation BEFREE We hypothesized that CCDKN2A/B rs1063192 and rs4977756 and also the long noncoding RNA (lncRNA) CDKN2BAS rs2157719 glioma susceptibility polymorphisms identified by genome-wide association studies may contribute to medulloblastoma predisposition. 29314442 2018
dbSNP: rs1063192
rs1063192
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0025149
Disease:
Medulloblastoma
0.010 GeneticVariation BEFREE We hypothesized that CCDKN2A/B rs1063192 and rs4977756 and also the long noncoding RNA (lncRNA) CDKN2BAS rs2157719 glioma susceptibility polymorphisms identified by genome-wide association studies may contribute to medulloblastoma predisposition. 29314442 2018
dbSNP: rs1063192
rs1063192
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0278510
Disease:
Childhood Medulloblastoma
0.010 GeneticVariation BEFREE We hypothesized that CCDKN2A/B rs1063192 and rs4977756 and also the long noncoding RNA (lncRNA) CDKN2BAS rs2157719 glioma susceptibility polymorphisms identified by genome-wide association studies may contribute to medulloblastoma predisposition. 29314442 2018
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0031099
Disease:
Periodontitis
0.010 GeneticVariation BEFREE The primary objectives of the study were to assess, among cardiovascular (CV angiographically proven ≥50% stenosis of a main coronary artery) patients, the impact of ANRIL SNPs rs133049 and rs3217992 on the severity of periodontitis and the previous history of coronary events, as well as on the occurrence of further adverse CV events. 29732560 2018
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C4025886
Disease:
Severe periodontitis
0.010 GeneticVariation BEFREE ANRIL SNPs rs133049 and rs3217992 were not associated with severe periodontitis or history of CVD in CV patients. 29732560 2018
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE ANRIL SNPs rs133049 and rs3217992 were not associated with severe periodontitis or history of CVD in CV patients. 29732560 2018
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE The SNPs rs2811712, rs3731249, rs3217992 and rs2811709 were associated with B-ALL susceptibility in our Spanish population. 28481918 2017
dbSNP: rs1063192
rs1063192
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C2931822
Disease:
Nasopharyngeal carcinoma
0.010 GeneticVariation BEFREE Our results also provide support for associations reported from published NPC GWAS-rs6774494 (P = 1.5 × 10(-12); located in the MECOM gene region), rs9510787 (P = 5.0 × 10(-10); located in the TNFRSF19 gene region), and rs1412829/rs4977756/rs1063192 (P = 2.8 × 10(-8), P = 7.0 × 10(-7), and P = 8.4 × 10(-7), respectively; located in the CDKN2A/B gene region). 26545403 2016
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0235974
Disease:
Pancreatic carcinoma
0.010 GeneticVariation BEFREE We found that the A allele of the rs3217992 SNP was associated with an increased pancreatic cancer risk (ORhet=1.14, 95% CI 1.01-1.27, p=0.026, ORhom=1.30, 95% CI 1.12-1.51, p=0.00049). 27486979 2016
dbSNP: rs3217992
rs3217992
Entrez Id: 1030;100048912
Gene Symbol: CDKN2B;CDKN2B-AS1
CDKN2B;CDKN2B-AS1
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE We found that the A allele of the rs3217992 SNP was associated with an increased pancreatic cancer risk (ORhet=1.14, 95% CI 1.01-1.27, p=0.026, ORhom=1.30, 95% CI 1.12-1.51, p=0.00049). 27486979 2016