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: rs886037704
rs886037704
3 0.925 0.080 14 95103856 stop gained G/T snv 0.700 1.000 4 2009 2016
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: 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: rs184830847
rs184830847
1 14 95103721 stop gained G/A;C snv 2.8E-05 0.700 1.000 1 2014 2014
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: rs878855246
rs878855246
2 1.000 0.040 14 95113106 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1131691189
rs1131691189
1 14 95105752 stop gained G/A snv 0.700 0
dbSNP: rs1131691192
rs1131691192
2 1.000 0.040 14 95105784 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1131691201
rs1131691201
1 14 95096108 stop gained G/T snv 0.700 0
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: rs1131691208
rs1131691208
1 14 95096266 stop gained G/A snv 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: rs1131691217
rs1131691217
1 14 95115666 splice donor variant C/T snv 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: rs1131691227
rs1131691227
1 14 95093887 splice donor variant C/T snv 0.700 0
dbSNP: rs1131691231
rs1131691231
1 14 95111316 splice donor variant C/T snv 0.700 0
dbSNP: rs137852977
rs137852977
2 1.000 0.040 14 95117624 stop gained C/A;G snv 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