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: rs267608472
rs267608472
3 0.882 0.160 X 18579965 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs267608618
rs267608618
2 0.925 0.160 X 18604162 stop gained C/A;G snv 0.700 0
dbSNP: rs267608493
rs267608493
5 0.827 0.200 X 18584331 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs267608421
rs267608421
2 0.925 0.160 X 18510855 splice donor variant G/T snv 0.700 0
dbSNP: rs1555952078
rs1555952078
1 1.000 0.040 X 18604516 frameshift variant C/- delins 0.700 0
dbSNP: rs1555954752
rs1555954752
1 1.000 0.040 X 18625224 frameshift variant -/CAGATCT delins 0.700 0