Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762679
rs762679
Entrez Id: 4173
Gene Symbol: MCM4
MCM4
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs762679
rs762679
Entrez Id: 4173
Gene Symbol: MCM4
MCM4
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs762679
rs762679
Entrez Id: 4173
Gene Symbol: MCM4
MCM4
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs762679
rs762679
Entrez Id: 4173
Gene Symbol: MCM4
MCM4
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1563829725
rs1563829725
Entrez Id: 4173;5591
Gene Symbol: MCM4;PRKDC
MCM4;PRKDC
CUI: C1864947
Disease:
Natural Killer Cell Deficiency, Familial Isolated 		G 0.700 CausalMutation CLINVAR
dbSNP: rs2305952
rs2305952
Entrez Id: 4173;5591
Gene Symbol: MCM4;PRKDC
MCM4;PRKDC
CUI: C2239176
Disease:
Liver carcinoma 		0.010 GeneticVariation BEFREE The HCC risk was lower in patients with the MCM4 rs2305952 CC (OR = 0.22, 95%CI: 0.08-0.63, P = 0.01) and with the CHEK1 rs515255 TC, TT, TC/TT (OR = 0.73, 95%CI: 0.56-0.96, P = 0.02; OR = 0.67, 95%CI: 0.46-0.97, P = 0.04; OR = 0.72, 95%CI: 0.56-0.92, P = 0.01, respectively). 27350734 2016
dbSNP: rs1372047743
rs1372047743
Entrez Id: 4173;5591
Gene Symbol: MCM4;PRKDC
MCM4;PRKDC
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE ATR is an attractive target in cancer therapy because it signals replication stress and DNA lesions for repair and to S/G2 checkpoints. 26486089 2015
dbSNP: rs1372047743
rs1372047743
Entrez Id: 4173;5591
Gene Symbol: MCM4;PRKDC
MCM4;PRKDC
CUI: C0008626
Disease:
Congenital chromosomal disease 		0.010 GeneticVariation BEFREE The mutagenic effects of phospho-Ku70 are documented by a defective S/G2 checkpoint, accelerated disappearance of γ-H2AX foci and kinetics of DNA repair resulting in an increased level of genotoxic stress-induced chromosomal aberrations. 26337656 2015
dbSNP: rs1372047743
rs1372047743
Entrez Id: 4173;5591
Gene Symbol: MCM4;PRKDC
MCM4;PRKDC
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE ATR is an attractive target in cancer therapy because it signals replication stress and DNA lesions for repair and to S/G2 checkpoints. 26486089 2015