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: 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: rs10274701
rs10274701
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE The G allele of rs10274701 significantly increased the EZH2 expression level in TNBC (p = 0.01). 26162541 2015
dbSNP: rs10274701
rs10274701
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE The G allele of rs10274701 significantly increased the EZH2 expression level in TNBC (p = 0.01). 26162541 2015
dbSNP: rs3757441
rs3757441
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE EZH2 rs3757441 C/C genotype is associated with stronger EZH2 and H3K27me3 immunoreactivity in primary CRC: this SNP may serve as a promising biomarker for EZH2-targeting agents and may add independent information to KRAS and BRAF testing. 26553291 2015
dbSNP: rs3757441
rs3757441
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C4721579
Disease:
Secondary malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE The C/C genotype for the EZH2 rs3757441 single-nucleotide polymorphism (SNP) is linked with poor prognosis in metastatic colorectal cancer (CRC), but molecular and pathological characterization of this SNP is lacking. 26553291 2015
dbSNP: rs3757441
rs3757441
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Molecular and pathological characterization of the EZH2 rs3757441 single nucleotide polymorphism in colorectal cancer. 26553291 2015
dbSNP: rs2302427
rs2302427
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Furthermore, UCC patients who carried at least one G allele at rs2302427 had a lower invasive tumor stage than did patients carrying the major allele. 24691023 2014
dbSNP: rs267601394
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0598766
Disease:
Leukemogenesis
0.010 GeneticVariation BEFREE In summary, EZH2(Y641F) can collaborate with Myc to accelerate lymphomagenesis demonstrating a cooperative role of EZH2 mutations in oncogenesis. 24802772 2014
dbSNP: rs267601394
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE In summary, EZH2(Y641F) can collaborate with Myc to accelerate lymphomagenesis demonstrating a cooperative role of EZH2 mutations in oncogenesis. 24802772 2014
dbSNP: rs377467108
rs377467108
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C4082304
Disease:
Oligodontia
0.010 GeneticVariation BEFREE We identified two novel MSX1 variants with an amino acid substitution within the homeodomain; Thr174Ile (T174I) from a sporadic hypodontia case and Leu205Arg (L205R) from a familial oligodontia case. 25101640 2014
dbSNP: rs377467108
rs377467108
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0020608
Disease:
Hypodontia
0.010 GeneticVariation BEFREE We identified two novel MSX1 variants with an amino acid substitution within the homeodomain; Thr174Ile (T174I) from a sporadic hypodontia case and Leu205Arg (L205R) from a familial oligodontia case. 25101640 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: 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: 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: rs3757441
rs3757441
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: rs41277434
rs41277434
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The CCCA or CCTA haplotype among the four EZH2 sites (rs6950683, rs2302427, rs3757441, and rs41277434), respectively, was also associated with a reduced risk of HCC. 24040354 2013
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: rs1057519833
rs1057519833
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1332206
Disease:
Adult Lymphoma
0.010 GeneticVariation BEFREE Herein, we identify mutation of EZH2 A677 to a glycine (A677G) among lymphoma cell lines and primary tumor specimens. 22323599 2012
dbSNP: rs1057519833
rs1057519833
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1332979
Disease:
Childhood Lymphoma
0.010 GeneticVariation BEFREE Herein, we identify mutation of EZH2 A677 to a glycine (A677G) among lymphoma cell lines and primary tumor specimens. 22323599 2012
dbSNP: rs267601395
rs267601395
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE One tumor harbored a Y641N mutation of the histone methyltransferase EZH2 gene, previously linked to myeloid and lymphoid malignancy formation. 22740705 2012