Variant: rs1330628156 

    present in Gene: EPHB4
    present in Chromosome: 7
    Position on Chromosome: 100806485
    Alleles of this Variant: C/T

rs1330628156 in EPHB4 gene and CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 PMID 30578106 2019 Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

PMID 28687708 2017 Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

PMID 28730721 2017 EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.

PMID 29444212 2018 Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.