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: rs1553178726
rs1553178726
3 0.925 0.080 1 17044756 splice region variant C/G snv 0.700 0
dbSNP: rs398122805
rs398122805
6 0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 0.700 1.000 6 2006 2014
dbSNP: rs74315368
rs74315368
5 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 19 2001 2017
dbSNP: rs786201063
rs786201063
5 0.882 0.080 1 17033059 splice donor variant C/T snv 0.700 1.000 5 2006 2016
dbSNP: rs587782243
rs587782243
5 0.882 0.080 1 17033060 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 3 1990 2013
dbSNP: rs1060503759
rs1060503759
3 0.925 0.080 1 17024013 stop gained C/T snv 0.700 0
dbSNP: rs1060503762
rs1060503762
3 0.925 0.080 1 17044820 stop gained C/T snv 0.700 0
dbSNP: rs1131691061
rs1131691061
6 0.827 0.280 1 17054017 start lost C/T snv 0.700 0
dbSNP: rs1553177667
rs1553177667
1 1.000 0.080 1 17027748 splice donor variant C/T snv 0.700 0
dbSNP: rs778952116
rs778952116
3 0.925 0.080 1 17028736 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs876658367
rs876658367
4 0.882 0.080 1 17024028 missense variant C/T snv 0.700 0
dbSNP: rs878854576
rs878854576
2 1.000 0.080 1 17028727 missense variant C/T snv 0.700 0
dbSNP: rs1060503752
rs1060503752
3 0.925 0.080 1 17023994 frameshift variant CA/- del 0.700 0
dbSNP: rs762812025
rs762812025
4 0.882 0.080 1 17022689 frameshift variant CT/- delins 4.0E-06 0.700 1.000 3 2004 2014
dbSNP: rs1060503757
rs1060503757
5 0.882 0.080 1 17024024 frameshift variant G/- delins 0.700 1.000 5 2005 2013
dbSNP: rs398123690
rs398123690
4 0.925 0.080 1 17044849 frameshift variant G/-;GGG delins 0.700 1.000 1 2015 2015
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
dbSNP: rs1553177677
rs1553177677
1 1.000 0.080 1 17027787 stop gained G/A 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