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: rs2236224
rs2236224
1.000 0.080 14 64442433 intron variant G/A snv 0.40 0.33
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2236225
rs2236225
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs34181110
rs34181110
0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 1998 1998