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: 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: 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: rs1303000329
rs1303000329
DLC1
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs137955120
rs137955120
AP2A1 ; FUZ ; LOC105372435
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs139365610
rs139365610
AP2A1 ; FUZ ; LOC105372435
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1563593163
rs1563593163
DLC1
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1565818580
rs1565818580
ITGB1
CT 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs3127334
rs3127334
TBXT
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs387907204
rs387907204
FUZ
A 0.700 SusceptibilityMutation CLINVAR

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: rs786201015
rs786201015
CELSR1
TCA 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs786201016
rs786201016
CELSR1
C 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs786204030
rs786204030
MTHFR
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1114167354
rs1114167354
PARD3
0.800 GeneticVariation UNIPROT

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

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

2007