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: rs184830847
rs184830847
1 14 95103721 stop gained G/A;C snv 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs377205344
rs377205344
1 14 95096067 stop gained G/A;T snv 2.4E-05 0.700 0
dbSNP: rs1131691216
rs1131691216
1 14 95099914 frameshift variant -/A delins 1.2E-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: rs886037695
rs886037695
2 1.000 0.040 14 95106139 frameshift variant AG/- del 4.0E-06 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: rs886037708
rs886037708
2 1.000 0.040 14 95103670 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs1131691206
rs1131691206
1 14 95096387 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs754818927
rs754818927
2 1.000 0.040 14 95115704 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs886037704
rs886037704
3 0.925 0.080 14 95103856 stop gained G/T snv 0.700 1.000 4 2009 2016
dbSNP: rs875989784
rs875989784
3 0.925 0.080 14 95096510 frameshift variant AAGA/- delins 0.700 1.000 2 2014 2014
dbSNP: rs886037672
rs886037672
3 1.000 0.040 14 95116680 stop gained G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs886037683
rs886037683
2 1.000 0.040 14 95113091 splice donor variant C/A;T snv 0.700 1.000 2 2011 2014
dbSNP: rs1131691194
rs1131691194
1 14 95096365 frameshift variant C/- del 0.700 1.000 1 2013 2013
dbSNP: rs1131691225
rs1131691225
1 14 95105698 stop gained C/A snv 0.700 1.000 1 2011 2011
dbSNP: rs137852978
rs137852978
2 1.000 0.040 14 95106198 stop gained G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs878855246
rs878855246
2 1.000 0.040 14 95113106 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs886037706
rs886037706
2 1.000 0.040 14 95103807 frameshift variant A/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1131691189
rs1131691189
1 14 95105752 stop gained G/A snv 0.700 0
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: rs1131691192
rs1131691192
2 1.000 0.040 14 95105784 splice acceptor variant C/A snv 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