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: rs1057516292
rs1057516292
1 1.000 0.160 9 37429833 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516299
rs1057516299
1 1.000 0.160 9 37426653 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516823
rs1057516823
1 1.000 0.160 9 37432027 frameshift variant -/A delins 0.700 0
dbSNP: rs1057516831
rs1057516831
1 1.000 0.160 9 37436749 frameshift variant A/- del 0.700 0
dbSNP: rs1057516990
rs1057516990
1 1.000 0.160 9 37429753 frameshift variant T/- del 0.700 0
dbSNP: rs1057517026
rs1057517026
1 1.000 0.160 9 37428516 frameshift variant TG/- delins 0.700 0
dbSNP: rs1057517238
rs1057517238
1 1.000 0.160 9 37425932 frameshift variant -/A delins 0.700 0
dbSNP: rs1057517333
rs1057517333
1 1.000 0.160 9 37428514 frameshift variant GC/- del 0.700 0
dbSNP: rs1057517398
rs1057517398
1 1.000 0.160 9 37424977 splice donor variant T/G snv 0.700 0
dbSNP: rs111256477
rs111256477
1 1.000 0.160 9 37429837 splice donor variant G/C;T snv 8.0E-06; 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs119490108
rs119490108
2 0.925 0.160 9 37426545 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs121908525
rs121908525
7 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs1244822375
rs1244822375
1 1.000 0.160 9 37424976 splice donor variant G/C;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1257080057
rs1257080057
1 1.000 0.160 9 37432006 splice acceptor variant A/- del 7.0E-06 0.700 0
dbSNP: rs1422977131
rs1422977131
1 1.000 0.160 9 37430510 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1554746094
rs1554746094
1 1.000 0.160 9 37422751 start lost A/G;T snv 0.700 0
dbSNP: rs1554746097
rs1554746097
1 1.000 0.160 9 37422752 start lost T/G snv 0.700 0
dbSNP: rs1554746565
rs1554746565
1 1.000 0.160 9 37424948 frameshift variant TG/- delins 0.700 0
dbSNP: rs1554746793
rs1554746793
1 1.000 0.160 9 37425920 splice acceptor variant AG/- del 0.700 0
dbSNP: rs1554746962
rs1554746962
1 1.000 0.160 9 37426600 frameshift variant -/TACTTACCACCTGC delins 0.700 0
dbSNP: rs1554747871
rs1554747871
1 1.000 0.160 9 37429733 frameshift variant C/- delins 0.700 0
dbSNP: rs1554747933
rs1554747933
1 1.000 0.160 9 37429836 splice donor variant G/- delins 0.700 0
dbSNP: rs1554748528
rs1554748528
1 1.000 0.160 9 37432054 frameshift variant GG/TAC delins 0.700 0
dbSNP: rs1554748534
rs1554748534
1 1.000 0.160 9 37432055 frameshift variant -/T delins 0.700 0
dbSNP: rs1554748574
rs1554748574
1 1.000 0.160 9 37432121 frameshift variant -/G delins 0.700 0