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: rs1555616143
rs1555616143
4 0.882 0.280 17 61849155 frameshift variant TTCTT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1057519365
rs1057519365
5 0.851 0.320 17 61780931 frameshift variant TT/- delins 0.700 1.000 2 2011 2015
dbSNP: rs878855151
rs878855151
4 0.882 0.200 17 61684053 frameshift variant TT/- delins 0.700 0
dbSNP: rs771028677
rs771028677
4 0.882 0.280 17 61684053 frameshift variant TGTT/-;TGTTTGTT delins 2.1E-05 0.700 0
dbSNP: rs878855143
rs878855143
2 0.925 0.200 17 61776564 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs786203700
rs786203700
4 0.882 0.280 17 61857233 splice acceptor variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 4 2005 2016
dbSNP: rs16945628
rs16945628
4 0.851 0.120 17 61789868 intron variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs869312763
rs869312763
3 0.925 0.200 17 61686167 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1060501765
rs1060501765
2 0.925 0.200 17 61847214 stop gained T/A;C snv 0.700 0
dbSNP: rs876659707
rs876659707
3 0.925 0.200 17 61847222 splice acceptor variant T/A snv 0.700 1.000 3 2005 2011
dbSNP: rs4988349
rs4988349
2 0.925 0.080 17 61784279 missense variant T/A snv 3.6E-05 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs774684620
rs774684620
3 0.925 0.200 17 61684099 frameshift variant T/-;TT delins 0.700 1.000 2 2008 2011
dbSNP: rs775735278
rs775735278
4 0.882 0.280 17 61784388 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1555580769
rs1555580769
1 1.000 0.080 17 61715952 frameshift variant T/- del 0.700 0
dbSNP: rs1555616150
rs1555616150
1 1.000 0.080 17 61849158 frameshift variant T/- delins 0.700 0
dbSNP: rs1555616176
rs1555616176
2 0.925 0.080 17 61849196 frameshift variant T/- del 0.700 0
dbSNP: rs1555617925
rs1555617925
2 0.925 0.200 17 61857227 frameshift variant T/- delins 0.700 0
dbSNP: rs1567838246
rs1567838246
2 0.925 0.200 17 61808665 frameshift variant T/- delins 0.700 0
dbSNP: rs749762964
rs749762964
2 0.925 0.200 17 61780973 frameshift variant T/- del 0.700 0
dbSNP: rs864622236
rs864622236
1 1.000 0.080 17 61801435 frameshift variant T/- del 0.700 0
dbSNP: rs1555580957
rs1555580957
1 1.000 0.080 17 61716043 frameshift variant GTA/CAAAT delins 0.700 0
dbSNP: rs1060501740
rs1060501740
2 0.925 0.200 17 61857167 stop gained G/T snv 1.2E-05 0.700 0
dbSNP: rs28903098
rs28903098
2 0.925 0.080 17 61859862 missense variant G/C;T snv 2.5E-04 0.700 0
dbSNP: rs777213170
rs777213170
1 1.000 0.080 17 61683837 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs786203898
rs786203898
3 0.925 0.200 17 61715964 stop gained G/A;T snv 0.700 0