rs80338908, TEK

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Vascular anomaly
CUI: C0158570
Disease: Vascular anomaly
0.010 GeneticVariation BEFREE R849W Tie2 is the most common mutation implicated in an inherited form of vascular malformations and has been shown to be activating, though little is known about the kinetic features of catalysis. 30638931 2019