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: rs587781410
rs587781410
3 0.925 17 58732548 inframe deletion GTA/- delins 0.700 1.000 7 2003 2017
dbSNP: rs587780835
rs587780835
1 1.000 17 58734116 splice acceptor variant A/G snv 0.700 1.000 4 2010 2015
dbSNP: rs730881939
rs730881939
5 0.851 0.200 17 58695008 stop gained -/A delins 0.700 1.000 4 2010 2016
dbSNP: rs730881941
rs730881941
2 1.000 17 58724037 splice acceptor variant CAGGG/- del 0.700 1.000 4 2010 2016
dbSNP: rs876658644
rs876658644
2 1.000 17 58703330 splice donor variant G/A snv 0.700 1.000 4 2010 2016
dbSNP: rs1555599288
rs1555599288
2 1.000 17 58709991 splice donor variant G/- del 0.700 1.000 3 2010 2014
dbSNP: rs1567789009
rs1567789009
1 1.000 17 58696861 splice donor variant T/A snv 0.700 1.000 3 2010 2014
dbSNP: rs587782036
rs587782036
3 0.925 17 58696692 splice acceptor variant G/A;C snv 0.700 1.000 3 2010 2014
dbSNP: rs730881933
rs730881933
1 1.000 17 58724101 splice donor variant G/A snv 0.700 1.000 3 2010 2014
dbSNP: rs730881942
rs730881942
4 0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05 0.700 1.000 3 2011 2016
dbSNP: rs754367349
rs754367349
3 0.925 17 58709927 frameshift variant T/- del 0.700 1.000 3 2011 2015
dbSNP: rs878855177
rs878855177
1 1.000 17 58692790 splice donor variant TAACGA/CTAAG delins 0.700 1.000 3 2010 2014
dbSNP: rs1060502601
rs1060502601
4 0.882 0.200 17 58709884 frameshift variant T/- delins 0.700 1.000 2 2015 2016
dbSNP: rs1555605074
rs1555605074
2 1.000 17 58732512 stop gained C/T snv 0.700 1.000 2 2003 2017
dbSNP: rs1064792966
rs1064792966
1 1.000 17 58734147 frameshift variant TCTGCATGTT/- delins 7.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs1555602141
rs1555602141
3 0.925 0.200 17 58720795 frameshift variant TTGTTCCTGC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1555603056
rs1555603056
2 1.000 17 58724097 frameshift variant A/- delins 0.700 1.000 1 2003 2003
dbSNP: rs1555605532
rs1555605532
1 1.000 17 58734130 stop gained A/T snv 0.700 1.000 1 2003 2003
dbSNP: rs587780840
rs587780840
1 1.000 17 58692740 frameshift variant CA/- del 0.700 1.000 1 2015 2015
dbSNP: rs768793789
rs768793789
2 0.925 0.120 17 58696811 frameshift variant -/C delins 0.700 1.000 1 2010 2010
dbSNP: rs786203945
rs786203945
2 1.000 17 58694964 frameshift variant CT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057517641
rs1057517641
2 0.925 17 58692790 splice donor variant T/G snv 0.700 0
dbSNP: rs1060502605
rs1060502605
2 1.000 17 58720757 frameshift variant ATCA/-;ATCAATCA delins 0.700 0
dbSNP: rs1555591851
rs1555591851
1 1.000 17 58692691 frameshift variant T/- delins 0.700 0
dbSNP: rs1555593616
rs1555593616
2 1.000 17 58695035 stop gained A/T snv 0.700 0