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: rs587777261
rs587777261
1 1.000 0.080 X 53248133 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs374220843
rs374220843
1 1.000 0.080 X 53236386 stop gained G/A;T snv 5.2E-05 1.9E-05 0.700 1.000 1 2016 2016
dbSNP: rs797045140
rs797045140
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886041481
rs886041481
1 1.000 0.080 X 53255995 frameshift variant G/- delins 0.700 1.000 1 2017 2017