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: rs137852985
rs137852985
1 1.000 0.080 17 61808488 missense variant C/T snv 0.700 1.000 7 2001 2014
dbSNP: rs756853672
rs756853672
2 0.925 0.200 17 61683645 frameshift variant G/- delins 1.2E-05 0.700 1.000 6 2005 2016
dbSNP: rs587780833
rs587780833
3 0.925 0.200 17 61847100 splice donor variant C/T snv 0.700 1.000 5 2005 2016
dbSNP: rs1555573327
rs1555573327
2 0.925 0.200 17 61685949 frameshift variant G/- delins 0.700 1.000 4 2008 2011
dbSNP: rs1555607022
rs1555607022
3 0.925 0.200 17 61799099 splice donor variant C/T snv 0.700 1.000 3 2005 2011
dbSNP: rs1555607628
rs1555607628
3 0.925 0.200 17 61801252 splice donor variant C/T snv 0.700 1.000 3 2005 2011
dbSNP: rs587782047
rs587782047
3 0.925 0.200 17 61861446 splice donor variant C/A;T snv 0.700 1.000 3 2005 2011
dbSNP: rs786203451
rs786203451
3 0.925 0.200 17 61693513 splice acceptor variant C/G;T snv 4.0E-06 0.700 1.000 3 2005 2011
dbSNP: rs876659707
rs876659707
3 0.925 0.200 17 61847222 splice acceptor variant T/A snv 0.700 1.000 3 2005 2011
dbSNP: rs876660203
rs876660203
4 0.882 0.280 17 61685835 splice donor variant C/T snv 0.700 1.000 3 2005 2011
dbSNP: rs1057519365
rs1057519365
5 0.851 0.320 17 61780931 frameshift variant TT/- delins 0.700 1.000 2 2011 2015
dbSNP: rs1060501774
rs1060501774
2 0.925 0.200 17 61683718 stop gained C/A snv 0.700 1.000 2 2010 2011
dbSNP: rs1555572698
rs1555572698
2 0.925 0.200 17 61683736 stop gained C/A snv 0.700 1.000 2 2010 2011
dbSNP: rs748598593
rs748598593
2 0.925 0.200 17 61683838 frameshift variant A/- del 0.700 1.000 2 2010 2011
dbSNP: rs774684620
rs774684620
3 0.925 0.200 17 61684099 frameshift variant T/-;TT delins 0.700 1.000 2 2008 2011
dbSNP: rs1292988272
rs1292988272
1 1.000 0.080 17 61857196 frameshift variant C/- del 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1555616143
rs1555616143
4 0.882 0.280 17 61849155 frameshift variant TTCTT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1567878148
rs1567878148
2 0.925 0.200 17 61861484 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs769797684
rs769797684
2 0.925 0.080 17 61744510 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs775171520
rs775171520
4 0.882 0.280 17 61793727 stop gained C/A;T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057517643
rs1057517643
3 0.882 0.280 17 61744578 stop gained A/T snv 0.700 0
dbSNP: rs1057517648
rs1057517648
4 0.882 0.280 17 61859795 splice donor variant C/- delins 0.700 0
dbSNP: rs1060501739
rs1060501739
2 0.925 0.200 17 61784403 stop gained G/A snv 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: rs1060501757
rs1060501757
2 0.925 0.200 17 61781006 splice acceptor variant C/A snv 0.700 0