Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267601395
rs267601395
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0006826
Disease:
Malignant Neoplasms 		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
dbSNP: rs377467108
rs377467108
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0001815
Disease:
Primary Myelofibrosis 		0.010 GeneticVariation BEFREE A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). 22052707 2012
dbSNP: rs3757441
rs3757441
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: rs3757441
rs3757441
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: rs3757441
rs3757441
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: 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: 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: 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: 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: 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 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 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: 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: rs10952780
rs10952780
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10952780
rs10952780
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs397515547
rs397515547
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		0.700 GeneticVariation UNIPROT Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. 28229514 2017
dbSNP: rs397515548
rs397515548
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		0.700 GeneticVariation UNIPROT Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. 28229514 2017
dbSNP: rs1057519894
rs1057519894
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C4721532
Disease:
Lymphoma, Non-Hodgkin, Familial 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519894
rs1057519894
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0151779
Disease:
Cutaneous Melanoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519894
rs1057519894
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0151779
Disease:
Cutaneous Melanoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519894
rs1057519894
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C4721532
Disease:
Lymphoma, Non-Hodgkin, Familial 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs267601394
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C4721532
Disease:
Lymphoma, Non-Hodgkin, Familial 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016