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: rs17855750
rs17855750
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.010 1.000 1 2004 2004
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.010 1.000 1 2015 2015
dbSNP: rs10821936
rs10821936
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.810 1.000 5 2009 2019
dbSNP: rs2239633
rs2239633
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.800 1.000 3 2009 2018
dbSNP: rs116855232
rs116855232
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs3824662
rs3824662
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.800 1.000 2 2013 2015
dbSNP: rs7089424
rs7089424
10 0.752 0.200 10 61992400 intron variant T/G snv 0.32 0.800 1.000 2 2009 2018
dbSNP: rs11978267
rs11978267
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.810 1.000 5 2009 2019
dbSNP: rs4132601
rs4132601
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.820 1.000 4 2009 2019
dbSNP: rs1057519753
rs1057519753
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1801265
rs1801265
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs3731217
rs3731217
10 0.763 0.320 9 21984662 intron variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1142345
rs1142345
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs10994982
rs10994982
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.710 1.000 3 2009 2019
dbSNP: rs10740055
rs10740055
7 0.790 0.240 10 61958720 intron variant C/A snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs1966862
rs1966862
8 0.790 0.120 4 85766908 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs2290400
rs2290400
9 0.790 0.360 17 39909987 intron variant T/C snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs2066865
rs2066865
FGG
10 0.807 0.240 4 154604124 downstream gene variant G/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs121913488
rs121913488
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121913448
rs121913448
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs387906517
rs387906517
6 0.827 0.120 9 130862919 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs6479778
rs6479778
5 0.827 0.200 10 61929318 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1135401746
rs1135401746
7 0.827 0.400 1 1806512 missense variant C/G snv 0.700 0
dbSNP: rs1057519773
rs1057519773
4 0.851 0.160 9 130872901 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014