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: 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: 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: 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
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: rs1131691201
rs1131691201
1 14 95096108 stop gained G/T snv 0.700 0
dbSNP: rs1131691202
rs1131691202
1 14 95096655 frameshift variant -/C delins 0.700 0
dbSNP: rs1131691203
rs1131691203
1 14 95117730 frameshift variant TT/- del 0.700 0