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: rs1555509636
rs1555509636
1 1.000 0.080 16 68737427 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1555517136
rs1555517136
1 1.000 0.080 16 68823562 frameshift variant T/- del 0.700 1.000 1 2015 2015
dbSNP: rs1555517889
rs1555517889
1 1.000 0.080 16 68829743 frameshift variant GGTATCTTCCCCGCCCTGCC/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1567507138
rs1567507138
1 1.000 0.080 16 68812233 frameshift variant C/- del 0.700 1.000 1 2007 2007
dbSNP: rs1567512585
rs1567512585
1 1.000 0.080 16 68822202 stop gained G/A snv 0.700 1.000 1 2007 2007
dbSNP: rs587782798
rs587782798
7 0.807 0.400 16 68813322 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs781409616
rs781409616
1 1.000 0.080 16 68801789 stop gained C/T snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs876658261
rs876658261
2 1.000 0.080 16 68815681 frameshift variant CGAGGAC/- delins 0.700 1.000 1 1999 1999
dbSNP: rs876658575
rs876658575
2 1.000 0.080 16 68828302 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs876658865
rs876658865
2 1.000 0.080 16 68738372 frameshift variant CCC/T delins 0.700 1.000 1 2019 2019
dbSNP: rs876658932
rs876658932
7 0.807 0.400 16 68801726 stop gained C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs876658944
rs876658944
1 1.000 0.080 16 68828274 stop gained T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs971882211
rs971882211
1 1.000 0.080 16 68823404 stop gained G/C;T snv 4.0E-06 2.1E-05 0.700 1.000 1 2014 2014
dbSNP: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs1057517542
rs1057517542
2 1.000 0.080 16 68829653 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1060501214
rs1060501214
1 1.000 0.080 16 68810201 frameshift variant TC/- delins 0.700 0
dbSNP: rs1060501248
rs1060501248
3 1.000 0.080 16 68829679 frameshift variant G/- delins 0.700 0
dbSNP: rs1064795703
rs1064795703
1 1.000 0.080 16 68801820 frameshift variant C/- delins 0.700 0
dbSNP: rs1131690810
rs1131690810
2 1.000 0.080 16 68815725 stop gained C/T snv 0.700 0
dbSNP: rs1131690819
rs1131690819
2 1.000 0.080 16 68810229 frameshift variant T/- del 0.700 0
dbSNP: rs121964873
rs121964873
2 0.925 0.080 16 68810290 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs121964874
rs121964874
1 1.000 0.080 16 68823557 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121964878
rs121964878
1 1.000 0.080 16 68822190 missense variant C/T snv 0.700 0
dbSNP: rs149127230
rs149127230
1 1.000 0.080 16 68823566 stop gained G/A;C;T snv 1.7E-04; 4.0E-06 0.700 0
dbSNP: rs1555514406
rs1555514406
1 1.000 0.080 16 68801709 frameshift variant -/T delins 0.700 0