Disease: Neural Tube Defects ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148512517
rs148512517
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C0027794
Disease:
Neural Tube Defects 		0.010 GeneticVariation BEFREE We identified three heterozygous missense variants in VANGL1, p.Ala187Val, p.Asp389His, and p.Arg517His, that are absent in controls and predicted to be detrimental on the protein function and, thus, we expanded the mutational spectrum of VANGL1 in NTD cases. 25208524 2015