Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918219
rs121918219
VANGL1
1.000 1 115682372 missense variant G/A snv 2.4E-05 4.2E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 1.000 2 2007 2009
dbSNP: rs121918220
rs121918220
VANGL1
1.000 1 115683980 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 1.000 2 2007 2009
dbSNP: rs761123443
rs761123443
VANGL1
1.000 1 115663998 missense variant G/A snv 2.4E-05 6.3E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 1.000 2 2007 2009
dbSNP: rs267607167
rs267607167
VANGL2
1.000 1 160421171 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 1.000 1 2010 2010
dbSNP: rs267607168
rs267607168
VANGL2
1.000 1 160425122 missense variant T/C snv
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 1.000 1 2010 2010
dbSNP: rs781461462
rs781461462
PARD3
1.000 10 34331221 missense variant G/A;C;T snv 1.6E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 1.000 1 2017 2017
dbSNP: rs1114167354
rs1114167354
PARD3
1.000 10 34341696 missense variant T/C snv
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.800 1.000 0 2017 2017
dbSNP: rs146695372
rs146695372
VANGL1
1.000 1 115663704 missense variant C/T snv 6.0E-05 9.8E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 2 2007 2009
dbSNP: rs12170597
rs12170597
CELSR1
1.000 22 46534853 missense variant G/A snv 1.2E-03 5.2E-03
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2012 2012
dbSNP: rs1302482009
rs1302482009
SCRIB
1.000 8 143810730 missense variant G/A snv 2.8E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2012 2012
dbSNP: rs199688538
rs199688538
CELSR1
1.000 22 46378661 missense variant C/T snv 4.8E-04 4.3E-04
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2012 2012
dbSNP: rs199923448
rs199923448
PARD3
1.000 10 34382893 missense variant C/A;T snv 8.0E-06; 5.6E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2017 2017
dbSNP: rs61741871
rs61741871
CELSR1
1.000 22 46364084 missense variant G/C snv 7.9E-03 3.2E-02
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2012 2012
dbSNP: rs778976254
rs778976254
DACT1
1.000 14 58638335 missense variant C/T snv 6.0E-04 2.1E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2012 2012
dbSNP: rs782428100
rs782428100
SCRIB
1.000 8 143792044 missense variant C/T snv 5.2E-05 9.1E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 1.000 1 2012 2012
dbSNP: rs6008777
rs6008777
CELSR1
1.000 22 46364140 missense variant G/A snv 5.9E-03 2.6E-02
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs775571796
rs775571796
VANGL1
1.000 1 115685423 missense variant G/T snv 1.2E-05
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0