Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749397
rs61749397
VWF
T 0.740 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs61749397
rs61749397
VWF
0.740 GeneticVariation BEFREE In summary, our studies identify altered PKC signaling as the underlying cause of platelet hypofunction in p.V1316M-associated VWD type 2B. 29925524

2018
dbSNP: rs61749397
rs61749397
VWF
0.740 GeneticVariation BEFREE Clinical history, hemostasis results, and gene analysis revealed von Willebrand disease (VWD) type 2B with the mutation (c.3946G>A; p.V1316M), which combines a von Willebrand factor defect with severe thrombocytopenia, as well as a thrombocytopathy. 27885890

2017
dbSNP: rs61749397
rs61749397
VWF
0.740 GeneticVariation BEFREE We engineered the first knock-in (KI) murine model for VWD-type 2B by introducing the p.V1316M mutation in murine VWF. 27212476

2016
dbSNP: rs61749397
rs61749397
VWF
0.740 GeneticVariation BEFREE We developed a mouse model to study phenotypic consequences of VWD-type 2B mutations in murine VWF: mVWF/R1306Q and mVWF/V1316M. 20200350

2010