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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 21 2011 2019
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.790 1.000 11 2010 2018
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.030 1.000 3 2014 2017
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2005 2009
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.020 1.000 2 2015 2017
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.020 0.500 2 2018 2019
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.020 1.000 2 2016 2019
dbSNP: rs118101777
rs118101777
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.020 1.000 2 2011 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2013
dbSNP: rs121909224
rs121909224
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 2 2001 2014
dbSNP: rs121913294
rs121913294
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 2 2014 2016
dbSNP: rs139236063
rs139236063
3 0.925 0.080 7 55165350 missense variant G/C;T snv 0.700 1.000 2 2006 2016
dbSNP: rs149840192
rs149840192
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.700 1.000 2 2006 2016
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2005 2016
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.020 1.000 2 2011 2015
dbSNP: rs1872328
rs1872328
6 0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02 0.020 1.000 2 2015 2016
dbSNP: rs2243115
rs2243115
12 0.776 0.320 3 159988493 intron variant T/G snv 0.10 0.020 1.000 2 2012 2017
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.020 1.000 2 2011 2013
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2008 2014
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1052576
rs1052576
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016