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: rs17857382
rs17857382
14 64449470 missense variant C/G;T snv 4.0E-06; 7.6E-03
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs56811449
rs56811449
14 64417358 intron variant C/T snv 0.16
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: rs1256146
rs1256146
14 64453947 intron variant G/A snv 0.17
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: rs6573559
rs6573559
14 64456448 intron variant G/T snv 0.31
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: rs2236225
rs2236225
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.100 0.857 14 2002 2019
dbSNP: rs1950902
rs1950902
0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2015 2015