Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glaucoma, Open-Angle
CUI: C0017612
Disease: Glaucoma, Open-Angle
0.810 GeneticVariation GWASDB Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. 22570617 2012
Glaucoma, Open-Angle
CUI: C0017612
Disease: Glaucoma, Open-Angle
0.810 GeneticVariation BEFREE The CDKN2B variant rs1063192 also was found to be associated more strongly with advanced OAG. 22840486 2012
Glaucoma, Open-Angle
CUI: C0017612
Disease: Glaucoma, Open-Angle
0.810 GeneticVariation GWASDB A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma. 22419738 2012
Glaucoma, Open-Angle
CUI: C0017612
Disease: Glaucoma, Open-Angle
0.810 GeneticVariation GWASCAT A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma. 22419738 2012
Glioma
CUI: C0017638
Disease: Glioma
0.710 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
Glaucoma
CUI: C0017601
Disease: Glaucoma
0.710 GeneticVariation BEFREE Stratification analysis by type of glaucoma revealed that rs1063192</span> polymorphism conferred a protective factor of primary open-angle glaucoma (POAG) and non-POAG. 28416752 2017
Glioma
CUI: C0017638
Disease: Glioma
0.710 GeneticVariation GWASDB Chromosome 7p11.2 (EGFR) variation influences glioma risk. 21531791 2011
Glaucoma
CUI: C0017601
Disease: Glaucoma
0.710 GeneticVariation GWASDB Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. 21532571 2011
Glioma
CUI: C0017638
Disease: Glioma
0.710 GeneticVariation GWASDB Genome-wide association study identifies five susceptibility loci for glioma. 19578367 2009
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
Nasopharyngeal Neoplasms
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
0.700 GeneticVariation GWASCAT A GWAS Meta-analysis and Replication Study Identifies a Novel Locus within CLPTM1L/TERT Associated with Nasopharyngeal Carcinoma in Individuals of Chinese Ancestry. 26545403 2016
Calcification of coronary artery
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
Glaucoma, Primary Open Angle
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
Glaucoma, Primary Open Angle
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
Glaucoma, Primary Open Angle
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
Glaucoma, Primary Open Angle
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
Glaucoma, Primary Open Angle
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
Low Tension Glaucoma
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
Low Tension Glaucoma
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
Adult Medulloblastoma
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
Medulloblastoma
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
Childhood Medulloblastoma
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
Nasopharyngeal carcinoma
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
Gestational Diabetes
CUI: C0085207
Disease: Gestational Diabetes
0.010 GeneticVariation BEFREE The CC genotype of CDKN2B rs1063192 in the hsa-miR-323b-5p binding site increased the risk of GDM in pregnant Chinese Han women. 25990668 2015
Piebaldism
CUI: C0080024
Disease: Piebaldism
0.010 GeneticVariation BEFREE The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 (p = 0.037), rs2157719 (p = 0.018) and rs1063192 (p = 0.021), were associated with an increased susceptibility to PBTs, whereas the TERT rs2736100 was associated with a decreased risk (p = 0.018). 26014354 2015