Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118203478
rs118203478
5 0.882 0.200 9 132911492 frameshift variant -/A;AA delins 0.700 0
dbSNP: rs1553511224
rs1553511224
10 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
dbSNP: rs587776625
rs587776625
12 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
dbSNP: rs730882220
rs730882220
3 1.000 0.080 7 256001 missense variant C/T snv 7.1E-06 0.700 0
dbSNP: rs869312693
rs869312693
3 0.925 0.080 14 102034135 missense variant C/T snv 0.700 0
dbSNP: rs587783562
rs587783562
DCX
3 0.882 0.080 X 111401139 missense variant G/A snv 0.010 1.000 1 1999 1999