Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs887569
rs887569
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE rs887569 and rs2302427 in <i>EZH2</i> may be correlated with a decreased cancer risk. 29497317 2018
dbSNP: rs887569
rs887569
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Individuals with the EZH2 rs887569 TT genotypes were associated with decreased cancer risk than those with wild-type CC genotype. 27630289 2016
dbSNP: rs887569
rs887569
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE Individuals with the EZH2 rs887569 TT genotypes were associated with decreased cancer risk than those with wild-type CC genotype. 27630289 2016
dbSNP: rs887569
rs887569
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE rs887569 and rs2302427 in <i>EZH2</i> may be correlated with a decreased cancer risk. 29497317 2018
dbSNP: rs887569
rs887569
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE Our findings provide evidence that the T allele of EZH2 rs887569 may be associated with the lower risk of bladder cancer development, especially among non-smokers. 27630289 2016
dbSNP: rs887569
rs887569
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE Our findings provide evidence that the T allele of EZH2 rs887569 may be associated with the lower risk of bladder cancer development, especially among non-smokers. 27630289 2016
dbSNP: rs887569
rs887569
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE Our findings provide evidence that the T allele of EZH2 rs887569 may be associated with the lower risk of bladder cancer development, especially among non-smokers. 27630289 2016
dbSNP: rs797045568
rs797045568
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome
CA 0.700 CausalMutation CLINVAR
dbSNP: rs797044844
rs797044844
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome
C 0.700 CausalMutation CLINVAR Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 24214728 2013
dbSNP: rs78589034
rs78589034
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C4551961
Disease:
Familial Isolated Hyperparathyroidism
0.010 GeneticVariation BEFREE Two polymorphisms of the EZH2 gene were identified with different prevalence: the rs2072407 variant was present in the 30 % of the samples, in keeping with the overall frequency in larger populations, while the rs78589034 variant, located close to the 5' end of the exon 16, was detected in only one proband with familial isolated hyperparathyroidism; we investigated the possible outcome on the splicing process. 26876532 2016
dbSNP: rs775407864
rs775407864
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome
G 0.700 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
dbSNP: rs754403133
rs754403133
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In addition, we demonstrated that decreased GATA3 levels are required for progestin-induced upregulation of cyclin A2, which mediates the G1 to S phase transition of the cell cycle and was reported to be associated with poor prognosis in breast cancer. 25479686 2014
dbSNP: rs754403133
rs754403133
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE In addition, we demonstrated that decreased GATA3 levels are required for progestin-induced upregulation of cyclin A2, which mediates the G1 to S phase transition of the cell cycle and was reported to be associated with poor prognosis in breast cancer. 25479686 2014
dbSNP: rs740949
rs740949
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE Haplotype G-T (rs740949 and rs6464926) was a risk factor for autism (Z=2.655, p=0.008, Global p=0.024). 26552012 2016
dbSNP: rs734005
rs734005
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE The other three SNPs, rs2072407, rs734005, and rs734004 contributed to significantly reduced risk of gastric cancer (P = 0.033, aOR = 0.787, 95% CI = 0.633-0.981, P = 0.045, aOR = 0.799, 95% CI = 0.642-0.995 and P = 0.048, aOR = 0.803, 95% CI = 0.645-0.999), respectively. 22228224 2014
dbSNP: rs734005
rs734005
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE The other three SNPs, rs2072407, rs734005, and rs734004 contributed to significantly reduced risk of gastric cancer (P = 0.033, aOR = 0.787, 95% CI = 0.633-0.981, P = 0.045, aOR = 0.799, 95% CI = 0.642-0.995 and P = 0.048, aOR = 0.803, 95% CI = 0.645-0.999), respectively. 22228224 2014
dbSNP: rs734004
rs734004
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE The other three SNPs, rs2072407, rs734005, and rs734004 contributed to significantly reduced risk of gastric cancer (P = 0.033, aOR = 0.787, 95% CI = 0.633-0.981, P = 0.045, aOR = 0.799, 95% CI = 0.642-0.995 and P = 0.048, aOR = 0.803, 95% CI = 0.645-0.999), respectively. 22228224 2014
dbSNP: rs734004
rs734004
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE The other three SNPs, rs2072407, rs734005, and rs734004 contributed to significantly reduced risk of gastric cancer (P = 0.033, aOR = 0.787, 95% CI = 0.633-0.981, P = 0.045, aOR = 0.799, 95% CI = 0.642-0.995 and P = 0.048, aOR = 0.803, 95% CI = 0.645-0.999), respectively. 22228224 2014
dbSNP: rs6950683
rs6950683
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Two polymorphisms of EZH2, rs6950683 and rs3757441, showed a statistically significant association with reduced risk of lung cancer (adjusted OR [aOR] = 0.71, p = 0.007; aOR = 0.73, p = 0.015, respectively). 19901851 2010
dbSNP: rs6950683
rs6950683
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The rs6950683 and rs3757441 polymorphic genotypes of EZH2 might contribute to the prediction of susceptibility to and pathological development of HCC. 24040354 2013
dbSNP: rs6950683
rs6950683
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Two polymorphisms of EZH2, rs6950683 and rs3757441, showed a statistically significant association with reduced risk of lung cancer (adjusted OR [aOR] = 0.71, p = 0.007; aOR = 0.73, p = 0.015, respectively). 19901851 2010
dbSNP: rs6950683
rs6950683
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Two polymorphisms of EZH2, rs6950683 and rs3757441, showed a statistically significant association with reduced risk of lung cancer (adjusted OR [aOR] = 0.71, p = 0.007; aOR = 0.73, p = 0.015, respectively). 19901851 2010
dbSNP: rs6464926
rs6464926
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE <i>EZH2</i> rs12670401, <i>EZH2</i> rs6464926, age of menarche, and menopausal status were associated with breast cancer susceptibility. 29089464 2018
dbSNP: rs6464926
rs6464926
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE A SNP (rs6464926) was significantly associated with autism even after Bonferroni correction (p=0.008). 26552012 2016
dbSNP: rs6464926
rs6464926
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE <i>EZH2</i> rs12670401, <i>EZH2</i> rs6464926, age of menarche, and menopausal status were associated with breast cancer susceptibility. 29089464 2018