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: rs74315368
rs74315368
5 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 16 2004 2015
dbSNP: rs74315370
rs74315370
5 0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05 0.700 1.000 16 2002 2015
dbSNP: rs772551056
rs772551056
9 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.700 1.000 14 2002 2018
dbSNP: rs397516836
rs397516836
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 13 2006 2018
dbSNP: rs587782604
rs587782604
7 0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 13 2005 2017
dbSNP: rs876658367
rs876658367
4 0.882 0.080 1 17024028 missense variant C/T snv 0.700 1.000 13 2002 2014
dbSNP: rs267607032
rs267607032
5 0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05 0.700 1.000 12 2008 2018
dbSNP: rs786202732
rs786202732
5 0.882 0.080 1 17024041 missense variant A/G snv 0.700 1.000 12 1995 2018
dbSNP: rs786202100
rs786202100
4 0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 0.700 1.000 10 2004 2014
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 9 2003 2012
dbSNP: rs74315366
rs74315366
6 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 0.700 1.000 9 2001 2017
dbSNP: rs786203251
rs786203251
5 0.882 0.080 1 17022649 missense variant G/A;T snv 0.700 1.000 9 2004 2015
dbSNP: rs398122805
rs398122805
6 0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 0.700 1.000 8 2006 2018
dbSNP: rs397516833
rs397516833
5 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 7 2004 2015
dbSNP: rs786201095
rs786201095
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 1.000 7 2005 2017
dbSNP: rs200245469
rs200245469
4 0.925 0.080 1 17022724 missense variant G/A;C snv 4.0E-06 0.700 1.000 6 2009 2016
dbSNP: rs397516835
rs397516835
4 0.925 0.080 1 17024040 missense variant C/G;T snv 0.700 1.000 6 1995 2013
dbSNP: rs587782703
rs587782703
8 0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 0.700 1.000 6 2006 2014
dbSNP: rs74315369
rs74315369
6 0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05 0.700 1.000 6 2002 2015
dbSNP: rs570278423
rs570278423
2 1.000 0.080 1 17033077 missense variant C/T snv 8.0E-06 3.5E-05 0.700 1.000 5 2005 2013
dbSNP: rs74315367
rs74315367
5 0.882 0.080 1 17024025 missense variant G/C snv 4.0E-06 0.700 1.000 5 2001 2015
dbSNP: rs747198089
rs747198089
2 1.000 0.080 1 17044873 frameshift variant G/- delins 4.0E-06 0.700 1.000 5 2003 2015
dbSNP: rs786201085
rs786201085
1 1 17022615 missense variant C/T snv 0.700 1.000 5 2005 2012
dbSNP: rs876660642
rs876660642
1 1 17022660 frameshift variant A/- delins 4.0E-06 0.700 1.000 5 2005 2015
dbSNP: rs1131691061
rs1131691061
6 0.827 0.280 1 17054017 start lost C/T snv 0.700 1.000 4 2009 2014