Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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