Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267601394
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma
0.720 GeneticVariation BEFREE As EZH2 mutations often coincide with other mutations in lymphoma, we combined the expression of EZH2(Y641F) by crossing these transgenic mice with Eµ-Myc transgenic mice. 24802772 2014
dbSNP: rs267601394
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma
0.720 GeneticVariation BEFREE These results suggest that Ezh2(Y641F) induces lymphoma and melanoma through a vast reorganization of chromatin structure, inducing both repression and activation of polycomb-regulated loci. 27135738 2016
dbSNP: rs1057519833
rs1057519833
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma
0.710 GeneticVariation BEFREE Herein, we identify mutation of EZH2 A677 to a glycine (A677G) among lymphoma cell lines and primary tumor specimens. 22323599 2012
dbSNP: rs267601394
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1332206
Disease:
Adult Lymphoma
0.020 GeneticVariation BEFREE These results suggest that Ezh2(Y641F) induces lymphoma and melanoma through a vast reorganization of chromatin structure, inducing both repression and activation of polycomb-regulated loci. 27135738 2016
dbSNP: rs267601394
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1332979
Disease:
Childhood Lymphoma
0.020 GeneticVariation BEFREE As EZH2 mutations often coincide with other mutations in lymphoma, we combined the expression of EZH2(Y641F) by crossing these transgenic mice with Eµ-Myc transgenic mice. 24802772 2014
dbSNP: rs267601394
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1332206
Disease:
Adult Lymphoma
0.020 GeneticVariation BEFREE As EZH2 mutations often coincide with other mutations in lymphoma, we combined the expression of EZH2(Y641F) by crossing these transgenic mice with Eµ-Myc transgenic mice. 24802772 2014
dbSNP: rs267601394
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1332979
Disease:
Childhood Lymphoma
0.020 GeneticVariation BEFREE These results suggest that Ezh2(Y641F) induces lymphoma and melanoma through a vast reorganization of chromatin structure, inducing both repression and activation of polycomb-regulated loci. 27135738 2016
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: 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: 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: rs12670401
rs12670401
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: rs12670401
rs12670401
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
dbSNP: rs2072407
rs2072407
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: rs2302427
rs2302427
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE rs887569 and rs2302427 in <i>EZH2</i> may be correlated with a decreased cancer risk. 29497317 2018
dbSNP: rs2302427
rs2302427
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE The result showed that rs2302427 was significantly associated with CRC susceptibility under an additive model (<i>P</i>=0.0068). 29212262 2017
dbSNP: rs2302427
rs2302427
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE rs887569 and rs2302427 in <i>EZH2</i> may be correlated with a decreased cancer risk. 29497317 2018
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: C0025202
Disease:
melanoma
0.010 GeneticVariation BEFREE These results suggest that Ezh2(Y641F) induces lymphoma and melanoma through a vast reorganization of chromatin structure, inducing both repression and activation of polycomb-regulated loci. 27135738 2016
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