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: rs878854574
rs878854574
3 0.925 0.080 1 17033147 splice acceptor variant T/G snv 0.700 1.000 2 2009 2010
dbSNP: rs876658713
rs876658713
3 0.925 0.080 1 17033125 missense variant T/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs786201316
rs786201316
4 0.925 0.080 1 17028712 frameshift variant T/CC delins 0.700 1.000 1 2006 2006
dbSNP: rs74315372
rs74315372
1 1.000 0.080 1 17028628 missense variant T/C;G snv 0.800 1.000 13 2001 2017
dbSNP: rs786201161
rs786201161
5 0.882 0.080 1 17024076 splice acceptor variant T/C snv 0.700 1.000 5 2007 2014
dbSNP: rs1131691049
rs1131691049
5 0.882 0.080 1 17054019 start lost T/A snv 0.700 1.000 9 2003 2013
dbSNP: rs202101384
rs202101384
6 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.700 1.000 4 2012 2017
dbSNP: rs878854575
rs878854575
4 0.882 0.080 1 17033075 stop gained T/A snv 0.700 1.000 1 2009 2009
dbSNP: rs1060503753
rs1060503753
3 0.925 0.080 1 17027790 stop gained T/A snv 0.700 0
dbSNP: rs1553177285
rs1553177285
1 1.000 0.080 1 17022676 stop gained T/A snv 0.700 0
dbSNP: rs1553177678
rs1553177678
3 0.925 0.080 1 17027798 frameshift variant T/- del 0.700 1.000 1 2013 2013
dbSNP: rs1553177666
rs1553177666
1 1.000 0.080 1 17027736 splice donor variant GGACTAATGACCAG/- delins 0.700 0
dbSNP: rs786202100
rs786202100
4 0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 0.700 1.000 6 2004 2014
dbSNP: rs587781266
rs587781266
3 0.925 0.080 1 17022654 frameshift variant GAGA/- delins 0.700 0
dbSNP: rs74315367
rs74315367
5 0.882 0.080 1 17024025 missense variant G/C snv 4.0E-06 0.800 1.000 13 2001 2017
dbSNP: rs786203251
rs786203251
5 0.882 0.080 1 17022649 missense variant G/A;T snv 0.700 1.000 10 1992 2013
dbSNP: rs786203506
rs786203506
4 0.925 0.080 1 17028649 stop gained G/A;C;T snv 0.700 0
dbSNP: rs74315366
rs74315366
6 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 0.700 1.000 10 2001 2014
dbSNP: rs74315370
rs74315370
5 0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05 0.700 1.000 10 2003 2017
dbSNP: rs751000085
rs751000085
4 0.882 0.080 1 17028680 stop gained G/A;C snv 8.0E-06 0.700 1.000 5 2006 2017
dbSNP: rs200245469
rs200245469
4 0.925 0.080 1 17022724 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2009 2010
dbSNP: rs74315369
rs74315369
6 0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05 0.700 0
dbSNP: rs138996609
rs138996609
5 0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 10 2003 2015
dbSNP: rs876658461
rs876658461
7 0.827 0.200 1 17023975 stop gained G/A snv 0.700 1.000 2 2007 2009
dbSNP: rs1553177676
rs1553177676
3 0.925 0.080 1 17027784 stop gained G/A snv 0.700 0