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: rs1020621286
rs1020621286
1 1.000 0.120 6 51772791 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
dbSNP: rs1057516201
rs1057516201
1 1.000 0.120 6 51748665 missense variant C/G snv 0.700 0
dbSNP: rs1057516221
rs1057516221
1 1.000 0.120 6 51887158 stop gained G/A snv 0.700 0
dbSNP: rs1057516283
rs1057516283
1 1.000 0.120 6 52033167 splice acceptor variant T/- del 8.0E-06 0.700 0
dbSNP: rs1057516382
rs1057516382
1 1.000 0.120 6 52025253 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516407
rs1057516407
1 1.000 0.120 6 51960028 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057516413
rs1057516413
1 1.000 0.120 6 51748142 frameshift variant -/ATGG delins 0.700 0
dbSNP: rs1057516441
rs1057516441
1 1.000 0.120 6 51903683 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057516490
rs1057516490
1 1.000 0.120 6 51847832 stop gained G/A snv 0.700 0
dbSNP: rs1057516562
rs1057516562
1 1.000 0.120 6 52044952 splice donor variant ATTCACTCTCACC/- delins 0.700 0
dbSNP: rs1057516588
rs1057516588
1 1.000 0.120 6 51883092 splice donor variant C/A snv 4.0E-06 0.700 0
dbSNP: rs1057516594
rs1057516594
1 1.000 0.120 6 52025689 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516596
rs1057516596
1 1.000 0.120 6 51883173 frameshift variant C/- del 0.700 0
dbSNP: rs1057516607
rs1057516607
1 1.000 0.120 6 51855911 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516608
rs1057516608
1 1.000 0.120 6 52050244 stop gained G/T snv 0.700 0
dbSNP: rs1057516626
rs1057516626
1 1.000 0.120 6 52024987 frameshift variant TA/- delins 0.700 0
dbSNP: rs1057516652
rs1057516652
1 1.000 0.120 6 51659300 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516690
rs1057516690
1 1.000 0.120 6 51855938 frameshift variant G/- delins 0.700 0
dbSNP: rs1057516691
rs1057516691
1 1.000 0.120 6 52025236 frameshift variant G/- delins 0.700 0
dbSNP: rs1057516692
rs1057516692
1 1.000 0.120 6 52017558 stop gained G/A snv 0.700 0
dbSNP: rs1057516697
rs1057516697
1 1.000 0.120 6 52073462 splice donor variant C/- delins 0.700 0
dbSNP: rs1057516706
rs1057516706
1 1.000 0.120 6 51909439 stop gained T/A snv 0.700 0
dbSNP: rs1057516709
rs1057516709
1 1.000 0.120 6 52046006 frameshift variant T/- del 0.700 0
dbSNP: rs1057516751
rs1057516751
1 1.000 0.120 6 51867900 stop gained C/A snv 0.700 0
dbSNP: rs1057516762
rs1057516762
1 1.000 0.120 6 52026085 frameshift variant TCACAATGTCACAGGACCGATTGCCCACAAGT/- delins 0.700 0