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: rs1057517595
rs1057517595
1 1.000 13 32339841 frameshift variant GT/- delins 0.700 0
dbSNP: rs1057517636
rs1057517636
1 1.000 13 32338829 stop gained A/T snv 0.700 0
dbSNP: rs1057517865
rs1057517865
1 1.000 13 32371025 stop gained A/T snv 0.700 0
dbSNP: rs1057518635
rs1057518635
2 1.000 13 32340367 frameshift variant ATAG/- delins 0.700 0
dbSNP: rs1057518637
rs1057518637
3 1.000 13 32336621 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518638
rs1057518638
2 1.000 13 32339317 stop gained T/A snv 0.700 0
dbSNP: rs1057519559
rs1057519559
2 0.925 0.200 13 32339514 frameshift variant AACA/- delins 0.700 0
dbSNP: rs1057520636
rs1057520636
1 1.000 13 32338581 stop gained T/A snv 0.700 0
dbSNP: rs1060499566
rs1060499566
1 1.000 13 32316421 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1060499833
rs1060499833
1 1.000 13 32339338 stop gained T/G snv 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
dbSNP: rs1060502449
rs1060502449
3 0.925 0.200 13 32337461 stop gained G/A;T snv 0.700 0
dbSNP: rs1060502454
rs1060502454
3 0.925 0.200 13 32332437 frameshift variant T/- del 0.700 0