Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167354
rs1114167354
PARD3
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT

dbSNP: rs121918219
rs121918219
VANGL1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979

2009
dbSNP: rs121918219
rs121918219
VANGL1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324

2007
dbSNP: rs121918220
rs121918220
VANGL1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979

2009
dbSNP: rs121918220
rs121918220
VANGL1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324

2007
dbSNP: rs267607167
rs267607167
VANGL2
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT VANGL2 mutations in human cranial neural-tube defects. 20558380

2010
dbSNP: rs267607168
rs267607168
VANGL2
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT VANGL2 mutations in human cranial neural-tube defects. 20558380

2010
dbSNP: rs761123443
rs761123443
VANGL1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979

2009
dbSNP: rs761123443
rs761123443
VANGL1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324

2007
dbSNP: rs781461462
rs781461462
PARD3
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		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: rs12170597
rs12170597
CELSR1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		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
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		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: rs146695372
rs146695372
VANGL1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979

2009
dbSNP: rs146695372
rs146695372
VANGL1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324

2007
dbSNP: rs199688538
rs199688538
CELSR1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		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: rs199923448
rs199923448
PARD3
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		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: rs6008777
rs6008777
CELSR1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT

dbSNP: rs61741871
rs61741871
CELSR1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		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: rs775571796
rs775571796
VANGL1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT

dbSNP: rs778976254
rs778976254
DACT1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT Identification of novel rare mutations of DACT1 in human neural tube defects. 22610794

2012
dbSNP: rs782428100
rs782428100
SCRIB
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		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