rs121918219, VANGL1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.800 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979 2009
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.800 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.800 SusceptibilityMutation CLINVAR
Neural Tube Defects
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