Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3751198
rs3751198
Entrez Id: 51559;55576
Gene Symbol: NT5DC3;STAB2
NT5DC3;STAB2
CUI: C2825857
Disease:
Factor VIII measurement
0.700 GeneticVariation GWASCAT Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. 30586737 2019
dbSNP: rs4981022
rs4981022
Entrez Id: 51559;55576
Gene Symbol: NT5DC3;STAB2
NT5DC3;STAB2
CUI: C2825857
Disease:
Factor VIII measurement
A 0.700 GeneticVariation GWASCAT Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. 30586737 2019
dbSNP: rs4981022
rs4981022
Entrez Id: 51559;55576
Gene Symbol: NT5DC3;STAB2
NT5DC3;STAB2
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
A 0.700 GeneticVariation GWASCAT Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. 30586737 2019
dbSNP: rs116878472
rs116878472
Entrez Id: 51559
Gene Symbol: NT5DC3
NT5DC3
CUI: C1720164
Disease:
Central corneal thickness
T 0.700 GeneticVariation GWASCAT Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 29760442 2018
dbSNP: rs4981022
rs4981022
Entrez Id: 51559;55576
Gene Symbol: NT5DC3;STAB2
NT5DC3;STAB2
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASCAT Genome-wide association studies identify genetic loci for low von Willebrand factor levels. 26486471 2016
dbSNP: rs4981022
rs4981022
Entrez Id: 51559;55576
Gene Symbol: NT5DC3;STAB2
NT5DC3;STAB2
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASCAT Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. 20231535 2010
dbSNP: rs141041254
rs141041254
Entrez Id: 51559;55576
Gene Symbol: NT5DC3;STAB2
NT5DC3;STAB2
CUI: C1264039
Disease:
von Willebrand Disease, Type 1
0.010 GeneticVariation BEFREE The stabilin-2 variant p.E2377K significantly decreased stabilin-2 expression and impaired VWF endocytosis in a heterologous expression system, and common STAB2 variants associated with plasma VWF levels in type 1 von Willebrand disease patients. 30124466 2018