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: rs1131691215
rs1131691215
1 14 95104050 splice acceptor variant -/T delins 0.700 0
dbSNP: rs1131691216
rs1131691216
1 14 95099914 frameshift variant -/A delins 1.2E-05 0.700 0
dbSNP: rs1131691217
rs1131691217
1 14 95115666 splice donor variant C/T snv 0.700 0
dbSNP: rs1131691218
rs1131691218
1 14 95124548 frameshift variant T/- del 0.700 0
dbSNP: rs1131691219
rs1131691219
1 14 95124216 stop gained G/C snv 0.700 0
dbSNP: rs1131691220
rs1131691220
1 14 95124326 stop gained C/A snv 0.700 0
dbSNP: rs1131691221
rs1131691221
1 14 95096282 stop gained -/T delins 0.700 0
dbSNP: rs1131691222
rs1131691222
1 14 95096635 frameshift variant A/- del 0.700 0
dbSNP: rs1131691223
rs1131691223
1 14 95091297 inframe insertion -/ATCCCCCAT delins 0.700 0
dbSNP: rs1131691224
rs1131691224
1 14 95103352 frameshift variant G/- del 0.700 0
dbSNP: rs1131691227
rs1131691227
1 14 95093887 splice donor variant C/T snv 0.700 0
dbSNP: rs1131691228
rs1131691228
1 14 95108361 frameshift variant C/- del 0.700 0
dbSNP: rs1131691229
rs1131691229
1 14 95096262 frameshift variant -/A delins 0.700 0
dbSNP: rs1131691231
rs1131691231
1 14 95111316 splice donor variant C/T snv 0.700 0
dbSNP: rs1131691232
rs1131691232
1 14 95116453 frameshift variant TTTTC/- delins 0.700 0
dbSNP: rs137852977
rs137852977
2 1.000 0.040 14 95117624 stop gained C/A;G snv 0.700 0
dbSNP: rs1555369579
rs1555369579
1 14 95103871 protein altering variant AATTGCTGTA/T delins 0.700 0
dbSNP: rs1555369632
rs1555369632
1 14 95103943 frameshift variant CA/- delins 0.700 0
dbSNP: rs1555372838
rs1555372838
1 14 95116479 frameshift variant G/- delins 0.700 0
dbSNP: rs1555374817
rs1555374817
1 14 95124611 frameshift variant TTTATCTGCACACC/- delins 0.700 0
dbSNP: rs34678453
rs34678453
2 1.000 0.040 14 95099856 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs377205344
rs377205344
1 14 95096067 stop gained G/A;T snv 2.4E-05 0.700 0
dbSNP: rs754081635
rs754081635
2 1.000 0.040 14 95113166 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs765059994
rs765059994
2 1.000 0.040 14 95099779 splice donor variant C/A;G snv 0.700 0
dbSNP: rs875989783
rs875989783
2 1.000 0.080 14 95103345 splice donor variant C/T snv 0.700 0