MDC1, mediator of DNA damage checkpoint 1, 9656

N. diseases: 56; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs115448006
rs115448006
Entrez Id: 9656;106478956
Gene Symbol: MDC1;MDC1-AS1
MDC1;MDC1-AS1
CUI: C0202075
Disease:
17 Hydroxyprogesterone measurement 		T 0.700 GeneticVariation GWASCAT Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease. 31169883 2019
dbSNP: rs114441450
rs114441450
Entrez Id: 9656;203068
Gene Symbol: MDC1;TUBB
MDC1;TUBB
CUI: C0008074
Disease:
Child Development Disorders, Pervasive 		0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
dbSNP: rs114441450
rs114441450
Entrez Id: 9656;203068
Gene Symbol: MDC1;TUBB
MDC1;TUBB
CUI: C0036341
Disease:
Schizophrenia 		0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
dbSNP: rs2253802
rs2253802
Entrez Id: 9656
Gene Symbol: MDC1
MDC1
CUI: C0005893
Disease:
Body mass index procedure 		0.700 GeneticVariation GWASDB Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany. 19584900 2010
dbSNP: rs2253802
rs2253802
Entrez Id: 9656
Gene Symbol: MDC1
MDC1
CUI: C0578022
Disease:
Finding of body mass index 		0.700 GeneticVariation GWASDB Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany. 19584900 2010
dbSNP: rs9262152
rs9262152
Entrez Id: 9656;106478956
Gene Symbol: MDC1;MDC1-AS1
MDC1;MDC1-AS1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
dbSNP: rs2269702
rs2269702
Entrez Id: 9656;106478956
Gene Symbol: MDC1;MDC1-AS1
MDC1;MDC1-AS1
CUI: C2242712
Disease:
Hyper LDL cholesterolaemia 		0.010 GeneticVariation BEFREE Among polymorphisms identified in the present study, two polymorphisms (rs146515657, rs147317864) may be novel determinants of hypo-HDL-cholesterolemia, and six polymorphisms (rs2853969, rs7771335, rs2071653, rs2269704, rs2269703, rs2269702) may be new determinants of hyper-LDL-cholesterolemia. 28473662 2017
dbSNP: rs4713354
rs4713354
Entrez Id: 9656
Gene Symbol: MDC1
MDC1
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Our data suggested that the SNP rs4713354A>C of MDC1 may be a functional genetic biomarker for susceptibility to lung cancer in Chinese. 25198518 2014
dbSNP: rs4713354
rs4713354
Entrez Id: 9656
Gene Symbol: MDC1
MDC1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Our data suggested that the SNP rs4713354A>C of MDC1 may be a functional genetic biomarker for susceptibility to lung cancer in Chinese. 25198518 2014
dbSNP: rs4713354
rs4713354
Entrez Id: 9656
Gene Symbol: MDC1
MDC1
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE Our data suggested that the SNP rs4713354A>C of MDC1 may be a functional genetic biomarker for susceptibility to lung cancer in Chinese. 25198518 2014