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: 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: 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: 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: 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: C0024299
Disease:
Lymphoma 		G 0.720 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
dbSNP: rs267601394
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma 		A 0.720 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
dbSNP: rs1057519833
rs1057519833
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma 		C 0.710 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
dbSNP: rs267601395
rs267601395
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma 		G 0.700 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
dbSNP: rs267601395
rs267601395
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma 		T 0.700 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
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: 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: 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