Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607167
rs267607167
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT VANGL2 mutations in human cranial neural-tube defects. 20558380 2010
dbSNP: rs267607168
rs267607168
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT VANGL2 mutations in human cranial neural-tube defects. 20558380 2010
dbSNP: rs267607167
rs267607167
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		T 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs267607168
rs267607168
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		C 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs12083518
rs12083518
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1314974864
rs1314974864
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
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: rs573558988
rs573558988
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
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