Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773507991
rs773507991
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C0220710
Disease:
Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.010 GeneticVariation BEFREE To date, more than 67 mutations have been reported to cause MCADD with a single allele, c.985A>G, being the most common in patients of northwestern European descent. 20567907 2010
dbSNP: rs11842874
rs11842874
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C0029408
Disease:
Degenerative polyarthritis
A 0.810 GeneticVariation GWASCAT Through large-scale replication, we establish a robust association with SNPs in MCF2L (rs11842874, combined odds ratio [95% confidence interval] 1.17 [1.11-1.23], p = 2.1 × 10(-8)) across a total of 19,041 OA cases and 24,504 controls of European descent. 21871595 2011
dbSNP: rs11842874
rs11842874
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C0029408
Disease:
Degenerative polyarthritis
A 0.810 GeneticVariation GWASDB Through large-scale replication, we establish a robust association with SNPs in MCF2L (rs11842874, combined odds ratio [95% confidence interval] 1.17 [1.11-1.23], p = 2.1 × 10(-8)) across a total of 19,041 OA cases and 24,504 controls of European descent. 21871595 2011
dbSNP: rs10665
rs10665
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
A 0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs10665
rs10665
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C1167912
Disease:
Coagulation factor measurement
A 0.700 GeneticVariation GWASCAT Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs2146751
rs2146751
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs2146752
rs2146752
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs2181540
rs2181540
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C1167912
Disease:
Coagulation factor measurement
T 0.700 GeneticVariation GWASCAT Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs2181540
rs2181540
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
T 0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs2476325
rs2476325
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs2873281
rs2873281
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs521720
rs521720
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs534298
rs534298
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs553702
rs553702
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs7327099
rs7327099
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs9324220
rs9324220
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs11842874
rs11842874
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C0029408
Disease:
Degenerative polyarthritis
0.810 GeneticVariation BEFREE One of the reported OA association signals is marked by the single nucleotide polymorphism (SNP) rs11842874 at chromosome 13q34. rs11842874 is positioned within a small linkage disequilibrium (LD) block within intron 4 of MCF2L, a gene encoding guanine-nucleotide exchange factor DBS. 26584642 2015
dbSNP: rs3011549
rs3011549
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C0871470
Disease:
Systolic Pressure
A 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs9549328
rs9549328
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C0871470
Disease:
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. 28135244 2017
dbSNP: rs766316400
rs766316400
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Identification of VPS35 p.D620N mutation-related Parkinson's disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review. 28985717 2017
dbSNP: rs12019546
rs12019546
Entrez Id: 23263;107984591
Gene Symbol: MCF2L;LOC107984591
MCF2L;LOC107984591
CUI: C1956346
Disease:
Coronary Artery Disease
A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs1317507
rs1317507
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C1956346
Disease:
Coronary Artery Disease
A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs9549328
rs9549328
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C0871470
Disease:
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs9549328
rs9549328
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9549328
rs9549328
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019