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: rs1057517566
rs1057517566
2 0.925 0.200 13 32337431 frameshift variant AA/- del 0.700 0
dbSNP: rs1057517572
rs1057517572
2 0.925 0.200 13 32319315 frameshift variant -/T delins 0.700 0
dbSNP: rs1057518639
rs1057518639
2 0.925 0.200 17 43070951 missense variant A/G snv 0.700 0
dbSNP: rs1057519558
rs1057519558
2 0.925 0.200 17 43082518 stop gained C/A;G;T snv 0.700 0
dbSNP: rs1057519559
rs1057519559
2 0.925 0.200 13 32339514 frameshift variant AACA/- delins 0.700 0
dbSNP: rs1060502327
rs1060502327
2 0.925 0.200 17 43099877 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1060502332
rs1060502332
2 0.925 0.200 17 43093401 frameshift variant A/TT delins 0.700 0
dbSNP: rs1060502333
rs1060502333
3 0.882 0.200 17 43093322 frameshift variant T/- delins 0.700 0
dbSNP: rs1060502334
rs1060502334
2 0.925 0.200 17 43093258 stop gained A/T snv 0.700 0
dbSNP: rs1060502345
rs1060502345
2 0.925 0.200 17 43091465 frameshift variant GAT/A delins 0.700 0
dbSNP: rs1060502354
rs1060502354
2 0.925 0.200 17 43093214 frameshift variant GTACCAA/- del 0.700 0
dbSNP: rs1060502356
rs1060502356
2 0.925 0.200 17 43057046 splice donor variant ACCTTT/- delins 0.700 0
dbSNP: rs1060502360
rs1060502360
2 0.925 0.200 17 43094787 frameshift variant G/- delins 0.700 0
dbSNP: rs1060502362
rs1060502362
2 0.925 0.200 17 43099855 frameshift variant GTTGGACA/- delins 0.700 0
dbSNP: rs1060502385
rs1060502385
2 0.925 0.200 13 32332376 frameshift variant GTA/TT delins 0.700 0
dbSNP: rs1060502391
rs1060502391
2 0.925 0.200 13 32337329 frameshift variant A/- delins 0.700 0
dbSNP: rs1060502392
rs1060502392
2 0.925 0.200 13 32340925 frameshift variant A/- delins 0.700 0
dbSNP: rs1060502395
rs1060502395
2 0.925 0.200 13 32326146 frameshift variant G/- del 0.700 0
dbSNP: rs1060502400
rs1060502400
2 0.925 0.200 13 32340575 frameshift variant C/- del 0.700 0
dbSNP: rs1060502403
rs1060502403
2 0.925 0.200 13 32332670 frameshift variant C/- del 0.700 0
dbSNP: rs1060502414
rs1060502414
2 0.925 0.200 13 32336945 stop gained C/T snv 0.700 0
dbSNP: rs1060502426
rs1060502426
2 0.925 0.200 13 32338628 frameshift variant G/- del 0.700 0
dbSNP: rs1060502433
rs1060502433
3 0.925 0.200 13 32357846 stop gained G/A;T snv 0.700 0
dbSNP: rs1060502437
rs1060502437
2 0.925 0.200 13 32336827 frameshift variant A/- delins 0.700 0
dbSNP: rs1060502444
rs1060502444
2 0.925 0.200 13 32340428 frameshift variant TC/- delins 0.700 0