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: rs1131691204
rs1131691204
1 14 95112249 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1131691205
rs1131691205
1 14 95099846 stop gained C/T snv 0.700 0
dbSNP: rs1131691206
rs1131691206
1 14 95096387 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1131691207
rs1131691207
1 14 95115735 frameshift variant T/- del 0.700 0
dbSNP: rs1131691208
rs1131691208
1 14 95096266 stop gained G/A snv 0.700 0
dbSNP: rs1131691209
rs1131691209
1 14 95117668 frameshift variant -/G delins 0.700 0
dbSNP: rs1131691210
rs1131691210
1 14 95108410 stop gained C/A snv 0.700 0
dbSNP: rs1131691211
rs1131691211
1 14 95124398 stop gained G/A snv 0.700 0
dbSNP: rs1131691212
rs1131691212
1 14 95124634 frameshift variant -/G delins 0.700 0
dbSNP: rs1131691213
rs1131691213
1 14 95111385 frameshift variant -/ATGCAAA delins 0.700 0
dbSNP: rs1131691214
rs1131691214
1 14 95103406 frameshift variant AT/- delins 0.700 0
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