Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769965440
rs769965440
EPHB4
0.700 GeneticVariation UNIPROT Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. 30578106

2019
dbSNP: rs769965440
rs769965440
EPHB4
0.700 GeneticVariation UNIPROT Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. 29444212

2018
dbSNP: rs769965440
rs769965440
EPHB4
0.700 GeneticVariation UNIPROT EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. 28730721

2017
dbSNP: rs769965440
rs769965440
EPHB4
0.700 GeneticVariation UNIPROT Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 28687708

2017