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: rs1131691223
rs1131691223
1 14 95091297 inframe insertion -/ATCCCCCAT delins 0.700 0
dbSNP: rs1131691227
rs1131691227
1 14 95093887 splice donor variant C/T snv 0.700 0
dbSNP: rs886037727
rs886037727
2 1.000 0.040 14 95093953 frameshift variant G/- delins 0.700 0
dbSNP: rs1131691199
rs1131691199
1 14 95094017 frameshift variant A/- delins 0.700 0
dbSNP: rs886037723
rs886037723
2 1.000 0.040 14 95094148 stop gained G/A snv 0.700 0
dbSNP: rs1131691196
rs1131691196
1 14 95095936 frameshift variant G/- delins 0.700 0
dbSNP: rs886037720
rs886037720
2 1.000 0.040 14 95095958 frameshift variant -/CT delins 0.700 0
dbSNP: rs1131691200
rs1131691200
1 14 95095994 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs377205344
rs377205344
1 14 95096067 stop gained G/A;T snv 2.4E-05 0.700 0
dbSNP: rs1131691201
rs1131691201
1 14 95096108 stop gained G/T snv 0.700 0
dbSNP: rs1131691229
rs1131691229
1 14 95096262 frameshift variant -/A delins 0.700 0
dbSNP: rs1131691208
rs1131691208
1 14 95096266 stop gained G/A snv 0.700 0
dbSNP: rs1131691221
rs1131691221
1 14 95096282 stop gained -/T delins 0.700 0
dbSNP: rs886037718
rs886037718
2 1.000 0.040 14 95096299 stop gained T/A snv 0.700 0
dbSNP: rs886037717
rs886037717
2 1.000 0.040 14 95096314 frameshift variant CA/- delins 0.700 0
dbSNP: rs1131691194
rs1131691194
1 14 95096365 frameshift variant C/- del 0.700 1.000 1 2013 2013
dbSNP: rs1131691206
rs1131691206
1 14 95096387 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs886037716
rs886037716
2 1.000 0.040 14 95096403 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1131691197
rs1131691197
2 1.000 0.040 14 95096461 frameshift variant -/T delins 0.700 0
dbSNP: rs875989784
rs875989784
3 0.925 0.080 14 95096510 frameshift variant AAGA/- delins 0.700 1.000 2 2014 2014
dbSNP: rs886037713
rs886037713
2 1.000 0.040 14 95096512 frameshift variant AA/- delins 0.700 0
dbSNP: rs886037712
rs886037712
2 1.000 0.040 14 95096608 frameshift variant TCAG/- delins 0.700 0
dbSNP: rs1131691222
rs1131691222
1 14 95096635 frameshift variant A/- del 0.700 0
dbSNP: rs1131691202
rs1131691202
1 14 95096655 frameshift variant -/C delins 0.700 0
dbSNP: rs765059994
rs765059994
2 1.000 0.040 14 95099779 splice donor variant C/A;G snv 0.700 0