Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906745
rs387906745
TEK
0.800 GeneticVariation UNIPROT Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. 19888299

2010

dbSNP: rs387906745
rs387906745
TEK
0.800 GeneticVariation UNIPROT Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. 19079259

2009

dbSNP: rs387906745
rs387906745
TEK
0.800 GeneticVariation UNIPROT Allelic and locus heterogeneity in inherited venous malformations. 10369874

1999

dbSNP: rs387906745
rs387906745
TEK
0.800 GeneticVariation UNIPROT Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. 8980225

1996

dbSNP: rs387906745
rs387906745
TEK
A 0.800 CausalMutation CLINVAR