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: rs1555165503
rs1555165503
1 1.000 0.120 11 64807590 frameshift variant TCAATGG/- delins 0.700 0
dbSNP: rs1555165756
rs1555165756
1 1.000 0.120 11 64807981 frameshift variant GG/- delins 0.700 0
dbSNP: rs1555166466
rs1555166466
1 1.000 0.120 11 64809792 frameshift variant TA/- delins 0.700 0
dbSNP: rs1555166494
rs1555166494
1 1.000 0.120 11 64809825 frameshift variant -/CGGTG delins 0.700 0
dbSNP: rs1555166681
rs1555166681
1 1.000 0.120 11 64809968 frameshift variant G/- del 0.700 0
dbSNP: rs1565640081
rs1565640081
1 1.000 0.120 11 64805050 frameshift variant C/- delins 0.700 0
dbSNP: rs1565645563
rs1565645563
1 1.000 0.120 11 64807072 missense variant G/T snv 0.700 0
dbSNP: rs1565651223
rs1565651223
1 1.000 0.120 11 64809724 frameshift variant A/- del 0.700 0
dbSNP: rs1565651568
rs1565651568
1 1.000 0.120 11 64809787 frameshift variant -/A ins 0.700 0
dbSNP: rs386134245
rs386134245
1 1.000 0.120 11 64806267 frameshift variant -/A delins 0.700 0
dbSNP: rs386134246
rs386134246
1 1.000 0.120 11 64805757 frameshift variant G/- delins 0.700 0
dbSNP: rs386134247
rs386134247
1 1.000 0.120 11 64805646 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs386134251
rs386134251
1 1.000 0.120 11 64809898 frameshift variant GG/- delins 0.700 0
dbSNP: rs386134253
rs386134253
1 1.000 0.120 11 64809857 frameshift variant -/A;AA delins 0.700 0
dbSNP: rs386134254
rs386134254
1 1.000 0.120 11 64809693 missense variant G/C snv 0.700 0
dbSNP: rs386134255
rs386134255
1 1.000 0.120 11 64808079 frameshift variant -/AATT ins 0.700 0
dbSNP: rs386134258
rs386134258
1 1.000 0.120 11 64807889 splice donor variant CCCGCTCA/- delins 0.700 0
dbSNP: rs386134259
rs386134259
2 1.000 0.120 11 64807577 stop gained G/A;C;T snv 0.700 0
dbSNP: rs386134261
rs386134261
1 1.000 0.120 11 64806325 frameshift variant -/A delins 0.700 0
dbSNP: rs398124437
rs398124437
2 1.000 0.120 11 64807010 splice donor variant C/G;T snv 0.700 0
dbSNP: rs772588551
rs772588551
1 1.000 0.120 11 64805646 stop gained C/A;T snv 8.0E-06 0.700 0
dbSNP: rs786204242
rs786204242
1 1.000 0.120 11 64810107 start lost C/T snv 0.700 0
dbSNP: rs794728616
rs794728616
2 1.000 0.120 11 64809997 missense variant G/A snv 0.700 0
dbSNP: rs794728627
rs794728627
1 1.000 0.120 11 64805703 missense variant G/A;C snv 0.700 0
dbSNP: rs794728629
rs794728629
1 1.000 0.120 11 64804817 splice acceptor variant C/G;T snv 0.700 0