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: rs10853104
rs10853104
1 1.000 0.120 17 49014714 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2070120
rs2070120
1 1.000 0.120 6 32813137 3 prime UTR variant G/A snv 9.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs72846714
rs72846714
1 1.000 0.120 10 103118697 intron variant G/A snv 0.15 0.010 < 0.001 1 2018 2018
dbSNP: rs79327197
rs79327197
1 1.000 0.120 6 33010635 upstream gene variant A/G snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs587776834
rs587776834
1 1.000 0.120 13 28034140 inframe deletion TCA/- delins 0.700 0
dbSNP: rs1339159756
rs1339159756
2 0.925 0.120 9 5078395 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs147390019
rs147390019
2 0.925 0.120 13 48045720 missense variant G/A snv 2.6E-03 2.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs17213693
rs17213693
2 0.925 0.120 6 32813344 intron variant G/C snv 9.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs2790
rs2790
2 0.925 0.160 18 673086 3 prime UTR variant A/G;T snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs408626
rs408626
2 0.925 0.120 5 80655314 non coding transcript exon variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs442767
rs442767
2 0.925 0.120 5 80655677 intron variant G/T snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs76925697
rs76925697
2 0.925 0.120 9 81132456 regulatory region variant A/T snv 3.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs78380171
rs78380171
2 0.925 0.120 3 86720838 intergenic variant A/G snv 6.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs7896246
rs7896246
2 0.925 0.120 10 61964631 intron variant A/G snv 0.74 0.010 1.000 1 2017 2017
dbSNP: rs886285
rs886285
2 0.925 0.120 5 132429514 intron variant T/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs10235796
rs10235796
3 0.882 0.120 7 50394939 intron variant T/C snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs104893636
rs104893636
3 0.882 0.120 2 176151875 missense variant A/C;T snv 5.2E-06; 7.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs1051296
rs1051296
3 0.882 0.120 21 45514947 3 prime UTR variant A/C snv 0.43 0.44 0.010 1.000 1 2014 2014
dbSNP: rs10519612
rs10519612
3 0.882 0.120 4 141732548 intron variant A/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs111978267
rs111978267
3 0.882 0.120 11 2751648 intron variant C/G;T snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1169704167
rs1169704167
ATM
3 0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1194008138
rs1194008138
3 0.882 0.120 5 143400121 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12402181
rs12402181
3 0.882 0.120 1 66628488 mature miRNA variant G/A snv 0.17 0.24 0.010 1.000 1 2018 2018
dbSNP: rs12434881
rs12434881
3 0.882 0.120 14 23119433 5 prime UTR variant G/A snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs12803915
rs12803915
3 0.882 0.120 11 65444508 non coding transcript exon variant G/A snv 0.16 0.17 0.010 1.000 1 2014 2014