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: rs797045140
rs797045140
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs786204849
rs786204849
7 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0
dbSNP: rs104886492
rs104886492
3 1.000 0.120 X 53432410 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs63750083
rs63750083
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs753426385
rs753426385
2 0.925 0.120 Y 14840846 missense variant A/G snv 0.010 1.000 1 2008 2008