Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783625
rs587783625
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1060503430
rs1060503430
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1131692184
rs1131692184
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554481435
rs1554481435
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0023480
Disease:
Leukemia, Myelomonocytic, Chronic 		0.700 GeneticVariation UNIPROT
dbSNP: rs1563181659
rs1563181659
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		ACTT 0.700 GeneticVariation CLINVAR
dbSNP: rs193921147
rs193921147
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs193921148
rs193921148
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587783627
rs587783627
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs797045568
rs797045568
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Weaver syndrome: autosomal dominant inheritance of the disorder. 9781912 1998
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Weaver syndrome: autosomal dominant inheritance of the disorder. 9781912 1998
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: 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: rs587783625
rs587783625
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		0.800 GeneticVariation UNIPROT Mutations in EZH2 cause Weaver syndrome. 22177091 2012
dbSNP: rs587783626
rs587783626
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		0.800 GeneticVariation UNIPROT Mutations in EZH2 cause Weaver syndrome. 22177091 2012
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Mutations in EZH2 cause Weaver syndrome. 22177091 2012
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Mutations in EZH2 cause Weaver syndrome. 22177091 2012
dbSNP: rs397515547
rs397515547
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		0.700 GeneticVariation UNIPROT Mutations in EZH2 cause Weaver syndrome. 22177091 2012
dbSNP: rs397515548
rs397515548
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		0.700 GeneticVariation UNIPROT Mutations in EZH2 cause Weaver syndrome. 22177091 2012
dbSNP: rs587783625
rs587783625
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		0.800 GeneticVariation UNIPROT Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 22190405 2011