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: rs1114167303
rs1114167303
SON
3 0.925 0.120 21 33553079 frameshift variant GGTAT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886039773
rs886039773
SON
3 0.925 0.120 21 33554982 frameshift variant TTAG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886039777
rs886039777
3 0.925 0.120 21 33549517 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs886039778
rs886039778
SON
3 0.925 0.120 21 33552303 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs886039779
rs886039779
SON
3 0.925 0.120 21 33557227 frameshift variant C/- delins 0.700 1.000 1 2016 2016