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: rs944289
rs944289
16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.850 1.000 6 2009 2015
dbSNP: rs116909374
rs116909374
11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.840 0.800 5 2012 2017
dbSNP: rs907580
rs907580
4 0.851 0.080 9 97860315 downstream gene variant T/A;C;G snv 0.710 1.000 2 2009 2015
dbSNP: rs925487
rs925487
2 0.925 0.080 9 97874116 regulatory region variant C/A;T snv 0.700 1.000 2 2009 2013
dbSNP: rs10122541
rs10122541
1 1.000 0.080 9 97865986 intergenic variant G/A snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs10984103
rs10984103
2 0.925 0.080 9 97876993 TF binding site variant A/C snv 0.68 0.700 1.000 1 2009 2009
dbSNP: rs2145418
rs2145418
3 0.882 0.080 1 118422631 intergenic variant C/A snv 0.78 0.010 1.000 1 2008 2008
dbSNP: rs6013897
rs6013897
7 0.790 0.200 20 54125940 regulatory region variant T/A snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs7866436
rs7866436
2 0.925 0.080 9 97887814 intergenic variant G/A snv 0.70 0.700 1.000 1 2013 2013
dbSNP: rs7902587
rs7902587
2 0.925 0.080 10 103934543 intergenic variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1126667
rs1126667
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2012 2012
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2016 2016
dbSNP: rs2245214
rs2245214
6 0.827 0.240 6 106214866 intron variant C/G snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs587779826
rs587779826
ATM
5 0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1064795638
rs1064795638
7 0.851 0.080 3 52403251 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.980 98 2004 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.979 96 2004 2019
dbSNP: rs747463591
rs747463591
3 0.882 0.080 10 59906391 missense variant C/A;G;T snv 4.9E-06; 9.9E-06 0.010 1.000 1 2015 2015
dbSNP: rs9344
rs9344
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2018 2018
dbSNP: rs35187787
rs35187787
6 0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05 0.700 0
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2004 2015
dbSNP: rs778212685
rs778212685
8 0.827 0.120 22 28712015 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs786203472
rs786203472
5 0.827 0.120 22 28719414 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs863224748
rs863224748
5 0.827 0.120 22 28734721 start lost T/C snv 0.010 1.000 1 2015 2015