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: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.030 1.000 3 2015 2018
dbSNP: rs3917225
rs3917225
6 0.807 0.160 2 102152842 intron variant A/G snv 0.36 0.010 < 0.001 1 2012 2012
dbSNP: rs2192752
rs2192752
1 1.000 0.080 2 102152913 intron variant G/T snv 0.84 0.010 1.000 1 2012 2012
dbSNP: rs949963
rs949963
3 0.925 0.160 2 102153326 intron variant C/T snv 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs1420106
rs1420106
5 0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2015 2015
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2016 2018
dbSNP: rs768891111
rs768891111
4 0.851 0.080 14 103699474 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs4915076
rs4915076
3 0.882 0.080 1 107816883 intron variant T/C snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs751409106
rs751409106
1 1.000 0.080 13 108209596 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.030 1.000 3 2009 2016
dbSNP: rs609429
rs609429
1 1.000 0.080 11 108325782 intron variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs373759
rs373759
3 0.882 0.120 11 108349930 intron variant C/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs3787016
rs3787016
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.020 1.000 2 2018 2019
dbSNP: rs373688070
rs373688070
3 0.882 0.120 9 110800531 missense variant A/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2015 2018
dbSNP: rs360717
rs360717
4 0.851 0.080 11 112164002 5 prime UTR variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2014 2014
dbSNP: rs1143643
rs1143643
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs1143633
rs1143633
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs3740530
rs3740530
2 1.000 0.080 10 113574365 synonymous variant C/T snv 0.63 0.55 0.010 1.000 1 2019 2019
dbSNP: rs2286742
rs2286742
2 1.000 0.080 10 113580733 intron variant G/A;C snv 0.57; 8.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs11575688
rs11575688
2 0.925 0.080 10 113583298 missense variant G/C snv 1.0E-02 1.1E-02 0.010 1.000 1 2018 2018