Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918219
rs121918219
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979 2009
dbSNP: rs121918220
rs121918220
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979 2009
dbSNP: rs761123443
rs761123443
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979 2009
dbSNP: rs121918219
rs121918219
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
dbSNP: rs121918220
rs121918220
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
dbSNP: rs761123443
rs761123443
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
dbSNP: rs121918219
rs121918219
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121918220
rs121918220
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		C 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs761123443
rs761123443
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs146695372
rs146695372
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979 2009
dbSNP: rs121918218
rs121918218
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C1838568
Disease:
Sacral defect and anterior sacral meningocele 		0.700 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
dbSNP: rs146695372
rs146695372
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
dbSNP: rs121918218
rs121918218
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C0300948
Disease:
Caudal Regression Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs775571796
rs775571796
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT
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
dbSNP: rs121918219
rs121918219
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C0027794
Disease:
Neural Tube Defects 		0.010 GeneticVariation BEFREE Of interest are two arginine residues, R181 and R274, that are highly conserved in Vangl protein homologues and found to be independently mutated in VANGL1 (R181Q and R274Q) and VANGL2 (R177H and R270H) in human cases of NTDs. 25068569 2014
dbSNP: rs34059106
rs34059106
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C0027794
Disease:
Neural Tube Defects 		0.010 GeneticVariation BEFREE And genotype GC increased the risk of NTDs, changes in the three-dimensional protein structure may have impacted its biological functions, and the rs34059106 polymorphism had no significant correlation with NTDs. 24407469 2014
dbSNP: rs4839469
rs4839469
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C0027794
Disease:
Neural Tube Defects 		0.010 GeneticVariation BEFREE Therefore, the rs4839469 allele of VANGL1 was obviously associated with NTDs. 24407469 2014
dbSNP: rs761123443
rs761123443
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C0027794
Disease:
Neural Tube Defects 		0.010 GeneticVariation BEFREE Of interest are two arginine residues, R181 and R274, that are highly conserved in Vangl protein homologues and found to be independently mutated in VANGL1 (R181Q and R274Q) and VANGL2 (R177H and R270H) in human cases of NTDs. 25068569 2014