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: rs1007534611
rs1007534611
1 1.000 0.120 4 5809612 splice donor variant G/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1169539647
rs1169539647
1 1.000 0.120 4 5809611 splice donor variant G/- delins 0.700 0
dbSNP: rs121908424
rs121908424
1 1.000 0.120 4 5808274 stop gained C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1300178432
rs1300178432
1 1.000 0.120 4 5756258 splice acceptor variant CAGGCTTTTCA/- delins 7.0E-06 0.700 0
dbSNP: rs1373632260
rs1373632260
1 1.000 0.120 4 5793699 missense variant T/C snv 6.4E-06 7.0E-06 0.700 0
dbSNP: rs1446547358
rs1446547358
2 0.925 0.160 4 5798724 stop gained C/T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs146475474
rs146475474
1 1.000 0.120 4 5798662 frameshift variant -/C delins 0.700 0
dbSNP: rs149898884
rs149898884
1 1.000 0.120 4 5756299 missense variant G/A snv 3.9E-04 1.6E-03 0.700 0
dbSNP: rs1553876034
rs1553876034
1 1.000 0.120 4 5753871 frameshift variant -/GAACAGAGAAG delins 0.700 0
dbSNP: rs1553876813
rs1553876813
1 1.000 0.120 4 5756271 frameshift variant -/T delins 0.700 0
dbSNP: rs1553876870
rs1553876870
1 1.000 0.120 4 5756352 frameshift variant -/A delins 0.700 0
dbSNP: rs1553886849
rs1553886849
1 1.000 0.120 4 5783550 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1553891368
rs1553891368
1 1.000 0.120 4 5797233 splice donor variant G/T snv 0.700 0
dbSNP: rs1553891936
rs1553891936
1 1.000 0.120 4 5798652 stop gained C/T snv 0.700 0
dbSNP: rs1553892090
rs1553892090
1 1.000 0.120 4 5798794 splice donor variant T/C snv 0.700 0
dbSNP: rs1553893423
rs1553893423
1 1.000 0.120 4 5802095 splice donor variant G/A snv 0.700 0
dbSNP: rs1553894457
rs1553894457
1 1.000 0.120 4 5804842 splice donor variant G/A snv 0.700 0
dbSNP: rs1553895755
rs1553895755
1 1.000 0.120 4 5808305 frameshift variant C/- delins 0.700 0
dbSNP: rs1553895776
rs1553895776
1 1.000 0.120 4 5808328 splice donor variant G/C snv 0.700 0
dbSNP: rs1560340993
rs1560340993
2 0.925 0.160 4 5753048 frameshift variant C/- delins 0.700 0
dbSNP: rs751772225
rs751772225
1 1.000 0.120 4 5783672 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs759106605
rs759106605
1 1.000 0.120 4 5756337 frameshift variant C/- delins 0.700 0
dbSNP: rs765269619
rs765269619
1 1.000 0.120 4 5783656 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs773019082
rs773019082
1 1.000 0.120 4 5798585 splice acceptor variant G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs779275317
rs779275317
1 1.000 0.120 4 5797013 splice acceptor variant CAAAGGTCCACGCGGTGTGTCCT/- delins 1.5E-04 0.700 0