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: rs587782533
rs587782533
1 17 58694943 frameshift variant C/- del 0.700 0
dbSNP: rs587782699
rs587782699
1 17 58696787 frameshift variant -/TA delins 0.700 0
dbSNP: rs730881931
rs730881931
3 0.925 17 58695191 splice donor variant T/C snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs730881932
rs730881932
2 1.000 0.200 17 58724069 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs730881940
rs730881940
2 1.000 17 58695174 frameshift variant -/A delins 0.700 0
dbSNP: rs748589398
rs748589398
2 1.000 17 58720744 splice acceptor variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs754367349
rs754367349
3 0.925 17 58709927 frameshift variant T/- del 0.700 0
dbSNP: rs786201909
rs786201909
2 1.000 17 58703254 stop gained T/G snv 0.700 0
dbSNP: rs786202563
rs786202563
1 17 58694999 frameshift variant ACCAA/- delins 0.700 0
dbSNP: rs786203945
rs786203945
2 1.000 17 58694964 frameshift variant CT/- delins 0.700 0
dbSNP: rs876658644
rs876658644
2 1.000 17 58703330 splice donor variant G/A snv 0.700 0
dbSNP: rs876658652
rs876658652
2 1.000 17 58724038 splice acceptor variant A/- del 7.0E-06 0.700 0
dbSNP: rs876659874
rs876659874
3 0.925 17 58724049 stop gained G/A snv 7.0E-06 0.700 0
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: 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: 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: 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: rs730881939
rs730881939
5 0.851 0.200 17 58695008 stop gained -/A delins 0.700 1.000 4 2010 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: 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: rs730881942
rs730881942
4 0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05 0.700 1.000 5 2011 2016
dbSNP: rs1555605103
rs1555605103
1 17 58732536 stop gained C/T snv 0.700 1.000 2 2011 2013
dbSNP: rs760235677
rs760235677
3 0.925 17 58709991 splice donor variant G/A;T snv 1.2E-05 0.700 1.000 1 2011 2011
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: rs587781410
rs587781410
3 0.925 17 58732548 inframe deletion GTA/- delins 0.700 1.000 6 2012 2017