Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918219
rs121918219 		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 		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 		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: rs146695372
rs146695372 		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: rs121918218
rs121918218 		0.925 0.160 1 115664171 missense variant G/A snv 5.2E-05 6.3E-05
CUI: C1838568
Disease: Sacral defect and anterior sacral meningocele
Sacral defect and anterior sacral meningocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs121918218
rs121918218 		0.925 0.160 1 115664171 missense variant G/A snv 5.2E-05 6.3E-05
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs775571796
rs775571796 		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
dbSNP: rs121918219
rs121918219 		1.000 1 115682372 missense variant G/A snv 2.4E-05 4.2E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs148512517
rs148512517 		1 115691354 missense variant G/A;T snv 5.2E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs34059106
rs34059106 		1 115684037 missense variant A/C;G snv 4.0E-03; 4.0E-06 1.7E-02
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs4839469
rs4839469 		1 115663802 missense variant G/A;C snv 0.15
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs761123443
rs761123443 		1.000 1 115663998 missense variant G/A snv 2.4E-05 6.3E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014