Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167354
rs1114167354
PARD3
C 0.800 CausalMutation CLINVAR Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. 27925688

2017
dbSNP: rs781461462
rs781461462
PARD3
T 0.800 CausalMutation CLINVAR Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. 27925688

2017
dbSNP: rs781461462
rs781461462
PARD3
0.800 GeneticVariation UNIPROT Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. 27925688

2017
dbSNP: rs267607167
rs267607167
VANGL2
0.800 GeneticVariation UNIPROT VANGL2 mutations in human cranial neural-tube defects. 20558380

2010
dbSNP: rs267607168
rs267607168
VANGL2
0.800 GeneticVariation UNIPROT VANGL2 mutations in human cranial neural-tube defects. 20558380

2010
dbSNP: rs121918219
rs121918219
VANGL1
0.800 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979

2009
dbSNP: rs121918220
rs121918220
VANGL1
0.800 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979

2009
dbSNP: rs761123443
rs761123443
VANGL1
0.800 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979

2009
dbSNP: rs121918219
rs121918219
VANGL1
0.800 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324

2007
dbSNP: rs121918220
rs121918220
VANGL1
0.800 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324

2007
dbSNP: rs761123443
rs761123443
VANGL1
0.800 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324

2007
dbSNP: rs1114167354
rs1114167354
PARD3
0.800 GeneticVariation UNIPROT

dbSNP: rs121918219
rs121918219
VANGL1
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs121918220
rs121918220
VANGL1
C 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs267607167
rs267607167
VANGL2
T 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs267607168
rs267607168
VANGL2
C 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs761123443
rs761123443
VANGL1
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs199923448
rs199923448
PARD3
0.700 GeneticVariation UNIPROT Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. 27925688

2017
dbSNP: rs557643577
rs557643577
PARD3
G 0.700 SusceptibilityMutation CLINVAR Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. 27925688

2017
dbSNP: rs757259023
rs757259023
PARD3
T 0.700 SusceptibilityMutation CLINVAR Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. 27925688

2017
dbSNP: rs762921297
rs762921297
PARD3
A 0.700 SusceptibilityMutation CLINVAR Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. 27925688

2017
dbSNP: rs12170597
rs12170597
CELSR1
0.700 GeneticVariation UNIPROT Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 22095531

2012
dbSNP: rs1302482009
rs1302482009
SCRIB
0.700 GeneticVariation UNIPROT Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 22095531

2012
dbSNP: rs199688538
rs199688538
CELSR1
0.700 GeneticVariation UNIPROT Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 22095531

2012
dbSNP: rs61741871
rs61741871
CELSR1
0.700 GeneticVariation UNIPROT Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 22095531

2012