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: rs387906713
rs387906713
1 1.000 0.080 X 110688800 missense variant C/A snv 0.800 1.000 1 2012 2012
dbSNP: rs1057516043
rs1057516043
1 1.000 0.080 X 110719855 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs1553200431
rs1553200431
8 0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 0.700 0
dbSNP: rs1568269273
rs1568269273
18 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
dbSNP: rs387906714
rs387906714
1 1.000 0.080 X 110694289 stop gained G/A snv 0.700 0
dbSNP: rs398122851
rs398122851
1 1.000 0.080 X 110688710 frameshift variant C/- del 0.700 0
dbSNP: rs398122852
rs398122852
1 1.000 0.080 X 110762799 frameshift variant CT/- delins 0.700 0
dbSNP: rs587776868
rs587776868
1 1.000 0.080 X 110759659 splice donor variant A/C snv 0.700 0
dbSNP: rs863225435
rs863225435
1 1.000 0.080 X 110688774 frameshift variant GA/- delins 0.700 0