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: rs121908425
rs121908425
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 1.000 3 2000 2018
dbSNP: rs1262933856
rs1262933856
1 1.000 0.120 4 5793607 splice acceptor variant G/A snv 6.4E-06 7.0E-06 0.700 1.000 1 2013 2013
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: rs1424976594
rs1424976594
1 1.000 0.120 4 5810453 splice region variant A/G snv 8.5E-06 0.700 1.000 2 2013 2017
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: rs1553873969
rs1553873969
2 0.925 0.160 4 5748262 frameshift variant -/AGCC delins 0.700 1.000 1 2013 2013
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: rs1553889992
rs1553889992
1 1.000 0.120 4 5793644 stop gained C/T snv 0.700 1.000 2 2007 2010
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