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: rs1057518759
rs1057518759
2 1.000 0.040 X 18604394 frameshift variant -/GC delins 0.700 0
dbSNP: rs1057519542
rs1057519542
1 1.000 0.040 X 18604372 frameshift variant -/GACC delins 0.700 0
dbSNP: rs1569219844
rs1569219844
1 1.000 0.040 X 18604845 frameshift variant AG/- del 0.700 0
dbSNP: rs267608501
rs267608501
3 0.882 0.160 X 18587986 missense variant C/T snv 0.700 0
dbSNP: rs786204967
rs786204967
2 1.000 0.040 X 18604169 frameshift variant AG/- delins 0.700 0