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: rs267606999
rs267606999
3 0.925 17 58696702 missense variant G/C snv 4.0E-06 1.4E-05 0.700 1.000 11 2010 2017
dbSNP: rs200293302
rs200293302
4 0.882 0.200 17 58703201 stop gained C/T snv 4.0E-05 0.700 1.000 8 2012 2017
dbSNP: rs587782702
rs587782702
3 0.925 17 58720817 splice region variant G/T snv 1.6E-05 1.4E-05 0.700 1.000 7 2010 2015
dbSNP: rs587780259
rs587780259
4 0.882 0.120 17 58709857 splice acceptor variant A/C;G snv 2.0E-05 2.1E-05 0.700 1.000 6 2011 2016
dbSNP: rs587781410
rs587781410
3 0.925 17 58732548 inframe deletion GTA/- delins 0.700 1.000 6 2012 2017
dbSNP: rs767796996
rs767796996
3 0.827 0.200 17 58695189 stop gained G/A;C snv 4.1E-06 0.700 1.000 6 2012 2017
dbSNP: rs387907159
rs387907159
4 0.882 0.200 17 58695182 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 5 2012 2017
dbSNP: rs730881942
rs730881942
4 0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05 0.700 1.000 5 2011 2016
dbSNP: rs267606997
rs267606997
2 0.882 0.120 17 58709926 missense variant G/A snv 4.4E-05; 1.6E-05 2.1E-05 0.700 1.000 4 2010 2016
dbSNP: rs587781287
rs587781287
3 0.925 17 58724090 stop gained C/A;T snv 8.0E-06 7.0E-06 0.700 1.000 4 2012 2016
dbSNP: rs730881939
rs730881939
5 0.851 0.200 17 58695008 stop gained -/A delins 0.700 1.000 4 2010 2016
dbSNP: rs779582317
rs779582317
2 1.000 17 58724038 splice acceptor variant A/C;G snv 1.2E-05 0.700 1.000 4 2013 2016
dbSNP: rs757128712
rs757128712
2 1.000 17 58692789 splice donor variant G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 3 2010 2015
dbSNP: rs770637624
rs770637624
4 0.882 0.200 17 58709862 stop gained C/T snv 1.6E-05 1.4E-05 0.700 1.000 3 2014 2017
dbSNP: rs1555605103
rs1555605103
1 17 58732536 stop gained C/T snv 0.700 1.000 2 2011 2013
dbSNP: rs587781995
rs587781995
3 0.925 17 58724038 splice acceptor variant AG/- del 1.2E-05 7.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs730881941
rs730881941
2 1.000 17 58724037 splice acceptor variant CAGGG/- del 0.700 1.000 2 2013 2015
dbSNP: rs746993675
rs746993675
1 17 58696785 frameshift variant T/- delins 4.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs759292615
rs759292615
2 1.000 17 58732523 stop gained C/A;T snv 8.0E-06 0.700 1.000 2 2002 2017
dbSNP: rs774586107
rs774586107
1 17 58724105 splice region variant G/A snv 4.0E-06 0.700 1.000 2 2013 2015
dbSNP: rs1413872299
rs1413872299
2 1.000 17 58703195 splice acceptor variant G/C;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1555602141
rs1555602141
3 0.925 0.200 17 58720795 frameshift variant TTGTTCCTGC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1555605074
rs1555605074
2 1.000 17 58732512 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs587782528
rs587782528
4 0.882 0.200 17 58692740 stop gained C/T snv 1.2E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs587782818
rs587782818
3 0.790 0.160 17 58703325 stop gained C/G snv 6.4E-05; 4.0E-06 1.4E-05 0.700 1.000 1 2014 2014