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: 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
dbSNP: rs886037667
rs886037667
2 1.000 0.040 14 95124428 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs886037671
rs886037671
2 1.000 0.040 14 95117723 stop gained C/A snv 0.700 0
dbSNP: rs886037684
rs886037684
2 1.000 0.040 14 95112226 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs886037689
rs886037689
2 1.000 0.040 14 95111326 stop gained G/T snv 0.700 0
dbSNP: rs886037692
rs886037692
2 1.000 0.040 14 95107663 stop gained C/A snv 0.700 0
dbSNP: rs886037707
rs886037707
2 1.000 0.040 14 95103738 stop gained G/A snv 0.700 0
dbSNP: rs886037708
rs886037708
2 1.000 0.040 14 95103670 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs886037711
rs886037711
2 1.000 0.040 14 95099796 stop gained C/T snv 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: rs886037718
rs886037718
2 1.000 0.040 14 95096299 stop gained T/A snv 0.700 0
dbSNP: rs886037723
rs886037723
2 1.000 0.040 14 95094148 stop gained G/A snv 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: rs886037706
rs886037706
2 1.000 0.040 14 95103807 frameshift variant A/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1131691190
rs1131691190
1 14 95124246 frameshift variant -/A delins 0.700 0
dbSNP: rs1131691191
rs1131691191
1 14 95103858 frameshift variant AAGA/- delins 0.700 0
dbSNP: rs1131691193
rs1131691193
1 14 95116472 frameshift variant -/T delins 0.700 0
dbSNP: rs1131691195
rs1131691195
1 14 95099900 frameshift variant -/T delins 0.700 0
dbSNP: rs1131691196
rs1131691196
1 14 95095936 frameshift variant G/- delins 0.700 0
dbSNP: rs1131691197
rs1131691197
2 1.000 0.040 14 95096461 frameshift variant -/T delins 0.700 0
dbSNP: rs1131691198
rs1131691198
1 14 95126606 frameshift variant T/- delins 0.700 0
dbSNP: rs1131691199
rs1131691199
1 14 95094017 frameshift variant A/- delins 0.700 0
dbSNP: rs1131691200
rs1131691200
1 14 95095994 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs1131691202
rs1131691202
1 14 95096655 frameshift variant -/C delins 0.700 0