Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2839186
rs2839186
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		T 0.800 GeneticVariation GWASCAT Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. 28604728 2017
dbSNP: rs2839186
rs2839186
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		T 0.800 GeneticVariation GWASDB Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
dbSNP: rs779248881
rs779248881
Entrez Id: 8888;114044
Gene Symbol: MCM3AP;MCM3AP-AS1
MCM3AP;MCM3AP-AS1
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.800 GeneticVariation UNIPROT
dbSNP: rs779248881
rs779248881
Entrez Id: 8888;114044
Gene Symbol: MCM3AP;MCM3AP-AS1
MCM3AP;MCM3AP-AS1
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs9982623
rs9982623
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C0031099
Disease:
Periodontitis 		C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci. 30218097 2019
dbSNP: rs9982623
rs9982623
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C0600298
Disease:
Periodontosis 		C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci. 30218097 2019
dbSNP: rs149024257
rs149024257
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs373674344
rs373674344
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy. 29982295 2018
dbSNP: rs483352869
rs483352869
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy. 29982295 2018
dbSNP: rs779630101
rs779630101
Entrez Id: 8888;114044
Gene Symbol: MCM3AP;MCM3AP-AS1
MCM3AP;MCM3AP-AS1
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy. 29982295 2018
dbSNP: rs373674344
rs373674344
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. 28633435 2017
dbSNP: rs373674344
rs373674344
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation. 28969388 2017
dbSNP: rs483352869
rs483352869
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation. 28969388 2017
dbSNP: rs483352869
rs483352869
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. 28633435 2017
dbSNP: rs779630101
rs779630101
Entrez Id: 8888;114044
Gene Symbol: MCM3AP;MCM3AP-AS1
MCM3AP;MCM3AP-AS1
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation. 28969388 2017
dbSNP: rs779630101
rs779630101
Entrez Id: 8888;114044
Gene Symbol: MCM3AP;MCM3AP-AS1
MCM3AP;MCM3AP-AS1
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. 28633435 2017
dbSNP: rs2839186
rs2839186
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C0039590
Disease:
Testicular Neoplasms 		T 0.700 GeneticVariation GWASCAT Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
dbSNP: rs373674344
rs373674344
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 24123876 2013
dbSNP: rs483352869
rs483352869
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 24123876 2013
dbSNP: rs779630101
rs779630101
Entrez Id: 8888;114044
Gene Symbol: MCM3AP;MCM3AP-AS1
MCM3AP;MCM3AP-AS1
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 GeneticVariation UNIPROT Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 24123876 2013
dbSNP: rs2839168
rs2839168
Entrez Id: 8888;114044
Gene Symbol: MCM3AP;MCM3AP-AS1
MCM3AP;MCM3AP-AS1
CUI: C0200635
Disease:
Lymphocyte Count measurement 		0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
dbSNP: rs1569086477
rs1569086477
Entrez Id: 8888;54059
Gene Symbol: MCM3AP;YBEY
MCM3AP;YBEY
CUI: C4748283
Disease:
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs773228537
rs773228537
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs11702450
rs11702450
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE We evaluated the impact of two polymorphisms at the GANP locus (rs2839178 and rs11702450) on the susceptibility and prognosis of breast cancer. 30810967 2019
dbSNP: rs11702450
rs11702450
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE We evaluated the impact of two polymorphisms at the GANP locus (rs2839178 and rs11702450) on the susceptibility and prognosis of breast cancer. 30810967 2019