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: rs730882008
rs730882008
23 0.683 0.440 17 7673775 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2017 2017
dbSNP: rs1131691042
rs1131691042
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs587782144
rs587782144
8 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 3 2015 2017
dbSNP: rs868137297
rs868137297
3 0.925 0.200 17 7675237 splice acceptor variant C/T snv 7.0E-06 0.700 1.000 4 2014 2016
dbSNP: rs1555525367
rs1555525367
3 0.925 0.200 17 7673838 splice acceptor variant C/A;T snv 0.700 1.000 2 2013 2015
dbSNP: rs11575996
rs11575996
2 1.000 0.120 17 7673535 missense variant C/A;T snv 0.700 1.000 2 2012 2018
dbSNP: rs1064795203
rs1064795203
2 1.000 0.120 17 7675080 missense variant G/C;T snv 0.700 1.000 6 2011 2017
dbSNP: rs587781664
rs587781664
2 1.000 0.120 17 7669692 splice acceptor variant T/C snv 0.700 1.000 2 2011 2016
dbSNP: rs730882001
rs730882001
3 0.925 0.200 17 7675119 stop gained G/A;T snv 0.700 1.000 2 2011 2015
dbSNP: rs786202799
rs786202799
3 0.925 0.200 17 7675238 splice acceptor variant T/A;C;G snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs876658982
rs876658982
1 17 7669691 splice acceptor variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1131691026
rs1131691026
3 0.925 0.160 17 7675174 stop gained C/T snv 0.700 1.000 4 2010 2014
dbSNP: rs121912666
rs121912666
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.700 1.000 4 2010 2014
dbSNP: rs267605076
rs267605076
6 0.851 0.160 17 7674859 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2010 2017
dbSNP: rs587781702
rs587781702
3 0.925 0.200 17 7673609 splice acceptor variant C/A;G;T snv 0.700 1.000 3 2009 2015
dbSNP: rs1131691004
rs1131691004
2 1.000 0.120 17 7676039 frameshift variant -/GAAACCG delins 0.700 1.000 1 2009 2009
dbSNP: rs1555526082
rs1555526082
1 17 7675100 frameshift variant CGTC/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1131691037
rs1131691037
1 17 7675220 missense variant T/A snv 0.700 1.000 2 2008 2012
dbSNP: rs587782160
rs587782160
2 17 7675221 missense variant T/A snv 0.700 1.000 2 2008 2013
dbSNP: rs730882029
rs730882029
4 0.882 0.200 17 7670685 stop gained G/A snv 0.700 1.000 7 2007 2016
dbSNP: rs1131691029
rs1131691029
6 0.827 0.160 17 7673794 missense variant C/G snv 0.700 1.000 3 2007 2010
dbSNP: rs730882007
rs730882007
2 1.000 0.120 17 7674212 missense variant T/G snv 0.700 1.000 2 2007 2011
dbSNP: rs587782664
rs587782664
15 0.742 0.320 17 7674252 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs876660548
rs876660548
3 0.925 0.200 17 7676096 stop gained C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs1131691043
rs1131691043
2 1.000 0.120 17 7675098 missense variant C/A snv 0.700 1.000 5 2005 2016