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: 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