Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: rs267601395
rs267601395
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE In cancer diseases, the first reported 2-pyridone inhibitors displayed high antiproliferative effects in vitro and in vivo in lymphomas characterized by mutant EZH2 (such as Y641N), but the most recent compounds exert their anticancer activity against tumors with wild-type EZH2 as well. 30338896 2018
dbSNP: rs3757441
rs3757441
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Although rs3757441 and rs41277434 are independent risk factors of cancer, further large-scale and functional studies are warranted to validate our findings. 29497317 2018
dbSNP: rs3757441
rs3757441
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Although rs3757441 and rs41277434 are independent risk factors of cancer, further large-scale and functional studies are warranted to validate our findings. 29497317 2018
dbSNP: rs41277434
rs41277434
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Although rs3757441 and rs41277434 are independent risk factors of cancer, further large-scale and functional studies are warranted to validate our findings. 29497317 2018
dbSNP: rs41277434
rs41277434
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Although rs3757441 and rs41277434 are independent risk factors of cancer, further large-scale and functional studies are warranted to validate our findings. 29497317 2018
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: 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: rs6464926
rs6464926
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE <i>EZH2</i> rs12670401 and rs6464926 polymorphisms, <i>EZH2</i> and <i>SMYD3</i> expression, clinical staging, lymph node metastasis, human epidermal growth factor receptor-2 (HER2) status, and metastasis may be correlated with breast cancer susceptibility and prognosis. 29089464 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: 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: 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: rs267601395
rs267601395
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Interestingly, mutation of EZH2 WT alone generated an intermediate resistance phenotype, which is consistent with a previously proposed model of cooperation between EZH2 WT and Y641N mutants to promote tumorigenesis. 25893294 2016
dbSNP: rs3757441
rs3757441
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE Among the three polymorphic sites examined, the genotypes of EZH2 rs887569 (C to T), but not rs41277434 (A to C) or rs3757441 (T to C), were positively associated with bladder cancer risk (p for trend =0.0146). 27630289 2016
dbSNP: rs3757441
rs3757441
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE Among the three polymorphic sites examined, the genotypes of EZH2 rs887569 (C to T), but not rs41277434 (A to C) or rs3757441 (T to C), were positively associated with bladder cancer risk (p for trend =0.0146). 27630289 2016
dbSNP: rs3757441
rs3757441
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE Among the three polymorphic sites examined, the genotypes of EZH2 rs887569 (C to T), but not rs41277434 (A to C) or rs3757441 (T to C), were positively associated with bladder cancer risk (p for trend =0.0146). 27630289 2016
dbSNP: rs41277434
rs41277434
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE Among the three polymorphic sites examined, the genotypes of EZH2 rs887569 (C to T), but not rs41277434 (A to C) or rs3757441 (T to C), were positively associated with bladder cancer risk (p for trend =0.0146). 27630289 2016
dbSNP: rs41277434
rs41277434
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE Among the three polymorphic sites examined, the genotypes of EZH2 rs887569 (C to T), but not rs41277434 (A to C) or rs3757441 (T to C), were positively associated with bladder cancer risk (p for trend =0.0146). 27630289 2016
dbSNP: rs41277434
rs41277434
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE Among the three polymorphic sites examined, the genotypes of EZH2 rs887569 (C to T), but not rs41277434 (A to C) or rs3757441 (T to C), were positively associated with bladder cancer risk (p for trend =0.0146). 27630289 2016
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: 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: 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