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: rs121913500
rs121913500
42 0.615 0.464 2 208248388 missense variant C/A,G,T snp 4.0E-06 0.750 1.000 7 2009 2015
dbSNP: rs121913499
rs121913499
34 0.630 0.464 2 208248389 missense variant G/A,C,T snp 0.720 1.000 4 2009 2015
dbSNP: rs121913503
rs121913503
17 0.724 0.179 15 90088606 missense variant C/A,T snp 0.700 2 2009 2016
dbSNP: rs1057519897
rs1057519897
6 0.801 0.214 8 38414788 missense variant C/G,T snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs1057519898
rs1057519898
5 0.846 0.107 8 38417333 missense variant T/C snp 0.700 1 2016 2016
dbSNP: rs1057519899
rs1057519899
5 0.846 0.107 8 38417879 missense variant T/C snp 0.700 1 2016 2016
dbSNP: rs1057519903
rs1057519903
2 0.923 0.071 1 226064434 missense variant A/T snp 0.700 1 2016 2016
dbSNP: rs121918464
rs121918464
15 0.756 0.321 12 112450406 missense variant G/A,C snp 0.700 1 2016 2016
dbSNP: rs121918465
rs121918465
7 0.821 0.179 12 112450407 missense variant A/C,G,T snp 0.700 1 2016 2016
dbSNP: rs28933368
rs28933368
7 0.801 0.071 17 39725721 missense variant G/A snp 0.700 1 2004 2004
dbSNP: rs779707422
rs779707422
7 0.801 0.250 8 38417331 missense variant G/A,T snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs869320694
rs869320694
7 0.784 0.393 8 38414790 missense variant T/C snp 0.700 1 2016 2016
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.050 1.000 5 2010 2015
dbSNP: rs2297440
rs2297440
5 0.821 0.071 20 63680946 intron variant T/C snp 0.80 0.020 1.000 2 2014 2015
dbSNP: rs10464870
rs10464870
3 0.878 0.071 8 129465577 intron variant C/T snp 0.79 0.010 1.000 1 2015 2015
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs118101777
rs118101777
15 0.715 0.214 15 90087472 missense variant C/T snp 2.0E-03 2.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs137852972
rs137852972
10 0.756 0.250 11 62702499 missense variant T/C snp 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs146848048
rs146848048
1 1.000 0.036 7 100861845 missense variant C/A,T snp 2.4E-05; 4.8E-05 2.6E-04 0.010 1.000 1 2002 2002
dbSNP: rs1801516
rs1801516
ATM
15 0.715 0.214 11 108304735 missense variant G/A snp 0.11 0.11 0.010 1.000 1 2009 2009
dbSNP: rs1870377
rs1870377
KDR
10 0.769 0.214 4 55106807 missense variant T/A snp 0.22 0.22 0.010 1.000 1 2016 2016
dbSNP: rs200026129
rs200026129
2 0.923 0.071 19 10113869 missense variant G/A snp 7.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs2071559
rs2071559
KDR
6 0.846 0.179 4 55126199 regulatory region variant A/G snp 0.52 0.010 1.000 1 2016 2016
dbSNP: rs2305948
rs2305948
KDR
4 0.878 0.107 4 55113391 missense variant C/A,T snp 4.0E-06; 0.11 0.14 0.010 1.000 1 2016 2016
dbSNP: rs281865545
rs281865545
7 0.784 0.214 17 64377836 missense variant C/G,T snp 0.010 1.000 1 2009 2009