Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338908
rs80338908
TEK
CUI: C0158570
Disease: Vascular anomaly
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