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: rs11540483
rs11540483
2 0.925 0.040 7 27787484 missense variant T/A snv 8.2E-02 7.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs1183646267
rs1183646267
ATM
2 0.925 0.040 11 108281026 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs16943176
rs16943176
2 0.925 0.040 17 58692526 upstream gene variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs17222691
rs17222691
2 0.925 0.040 17 58693735 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2014 2014
dbSNP: rs3782116
rs3782116
2 0.925 0.040 11 223119 3 prime UTR variant T/C snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs4150403
rs4150403
2 0.925 0.040 2 127292492 3 prime UTR variant C/T snv 5.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs4253132
rs4253132
2 0.925 0.040 10 49493110 splice region variant G/A;T snv 0.89; 4.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs522962
rs522962
2 0.925 0.040 20 49526825 intron variant T/C snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs554194414
rs554194414
2 0.925 0.040 2 8731250 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs6019902
rs6019902
2 0.925 0.040 20 49561676 intron variant G/A snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs6125671
rs6125671
2 0.925 0.040 20 49559061 intron variant C/T snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs6598072
rs6598072
2 0.925 0.040 11 219793 intron variant C/T snv 0.79 0.010 1.000 1 2019 2019
dbSNP: rs770925903
rs770925903
2 0.925 0.040 2 8731740 missense variant C/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7802034
rs7802034
2 0.925 0.040 7 152655183 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs927068
rs927068
2 0.925 0.040 20 49561437 intron variant G/T snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs10882272
rs10882272
3 0.925 0.040 10 93588425 3 prime UTR variant T/C snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs11752942
rs11752942
3 0.882 0.080 6 40354019 intron variant A/G snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs1667255
rs1667255
3 0.925 0.040 18 31607316 intergenic variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs752153816
rs752153816
3 0.882 0.120 6 43780848 missense variant G/A;C snv 4.0E-06; 4.0E-06; 1.2E-05; 3.6E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs876659477
rs876659477
3 0.882 0.040 17 7673730 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs971074
rs971074
3 0.925 0.040 4 99420704 synonymous variant C/T snv 0.12 0.13 0.010 < 0.001 1 2013 2013
dbSNP: rs1049253
rs1049253
4 0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs1058172
rs1058172
4 0.882 0.080 22 42127526 missense variant C/G;T snv 4.4E-06; 9.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs10950641
rs10950641
4 0.925 0.040 7 2294751 intron variant G/A snv 2.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs11016879
rs11016879
4 0.882 0.040 10 129691518 intron variant A/C;G snv 0.66 0.010 1.000 1 2018 2018