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: rs786203218
rs786203218
3 0.925 0.080 17 17224069 inframe deletion AAG/- delins 4.0E-06 7.0E-06 0.700 1.000 6 2008 2017
dbSNP: rs398124541
rs398124541
2 1.000 0.080 17 17219188 frameshift variant TTCT/- delins 8.0E-06 0.700 1.000 5 2008 2016
dbSNP: rs587782069
rs587782069
3 0.925 0.120 17 17224041 stop gained G/A snv 0.700 1.000 5 2013 2016
dbSNP: rs758175953
rs758175953
6 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 1.000 4 2005 2012
dbSNP: rs398124542
rs398124542
3 0.925 0.080 17 17219126 frameshift variant -/GTACTCTCTGGCAACACAGGGGCTTTCT delins 4.0E-05 0.700 1.000 3 2002 2016
dbSNP: rs776896550
rs776896550
2 1.000 0.080 17 17226224 frameshift variant -/T delins 4.0E-06 0.700 1.000 3 2008 2013
dbSNP: rs368778627
rs368778627
3 0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06 0.700 1.000 2 2008 2012
dbSNP: rs398124534
rs398124534
2 1.000 0.080 17 17226276 frameshift variant T/- del 0.700 1.000 2 2005 2008
dbSNP: rs398124535
rs398124535
2 1.000 0.080 17 17226252 frameshift variant AC/GTG delins 0.700 1.000 2 2008 2011
dbSNP: rs878855217
rs878855217
2 1.000 0.080 17 17223956 frameshift variant C/- delins 7.0E-06 0.700 1.000 2 2005 2008
dbSNP: rs1060502368
rs1060502368
2 1.000 0.080 17 17219060 frameshift variant G/- delins 7.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1131690840
rs1131690840
2 1.000 0.080 17 17222662 splice acceptor variant C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1490424623
rs1490424623
1 1.000 0.080 17 17219194 stop gained G/C snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1555608515
rs1555608515
1 1.000 0.080 17 17219083 frameshift variant AG/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1567819834
rs1567819834
1 1.000 0.080 17 17224030 stop gained G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs398124536
rs398124536
2 1.000 0.080 17 17226226 stop gained G/A;T snv 5.6E-05 0.700 1.000 1 2008 2008
dbSNP: rs398124538
rs398124538
1 1.000 0.080 17 17223929 stop gained GC/TA mnv 0.700 1.000 1 2010 2010
dbSNP: rs727504645
rs727504645
1 1.000 0.080 17 17224094 frameshift variant C/- delins 0.700 1.000 1 2002 2002
dbSNP: rs876657646
rs876657646
1 1.000 0.080 17 17223987 missense variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs878855212
rs878855212
1 1.000 0.080 17 17228025 frameshift variant C/- del 0.700 1.000 1 2005 2005
dbSNP: rs879255664
rs879255664
4 0.882 0.200 17 17222517 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs886039370
rs886039370
1 1.000 0.080 17 17219017 splice donor variant A/C;G snv 0.700 1.000 1 2005 2005
dbSNP: rs1060502369
rs1060502369
1 1.000 0.080 17 17227888 splice donor variant C/A snv 0.700 0
dbSNP: rs1060502370
rs1060502370
1 1.000 0.080 17 17227936 frameshift variant T/- del 0.700 0
dbSNP: rs1060502371
rs1060502371
1 1.000 0.080 17 17227899 frameshift variant T/- del 0.700 0