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: rs267607167
rs267607167
1.000 1 160421171 missense variant C/G;T snv 4.0E-06; 8.0E-06
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.800 1.000 1 2010 2010
dbSNP: rs267607168
rs267607168
1.000 1 160425122 missense variant T/C snv
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.800 1.000 1 2010 2010
dbSNP: rs12083518
rs12083518
1 160421989 intron variant A/G snv 0.26
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs1314974864
rs1314974864
1 160419339 missense variant G/A snv 1.4E-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: rs573558988
rs573558988
1 160420419 missense variant G/A;T snv 8.0E-06 8.4E-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