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: rs12170597
rs12170597
1.000 22 46534853 missense variant G/A snv 1.2E-03 5.2E-03
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 1.000 1 2012 2012
dbSNP: rs199688538
rs199688538
1.000 22 46378661 missense variant C/T snv 4.8E-04 4.3E-04
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 1.000 1 2012 2012
dbSNP: rs61741871
rs61741871
1.000 22 46364084 missense variant G/C snv 7.9E-03 3.2E-02
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 1.000 1 2012 2012
dbSNP: rs6008777
rs6008777
1.000 22 46364140 missense variant G/A snv 5.9E-03 2.6E-02
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs786201015
rs786201015
1.000 22 46409760 frameshift variant -/CA delins 1.2E-05
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs786201016
rs786201016
1.000 22 46396724 frameshift variant CA/- delins
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 0