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 0.020 1.000 2 2013 2015
dbSNP: rs12769316
rs12769316
3 0.925 0.160 10 102392994 upstream gene variant G/A snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2015 2019
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2017 2017
dbSNP: rs4771436
rs4771436
1 1.000 0.120 13 102849670 intron variant T/G snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs4699052
rs4699052
3 0.925 0.200 4 103216633 intergenic variant C/T snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 1.000 4 2007 2016
dbSNP: rs9295535
rs9295535
4 0.851 0.160 6 10439735 mature miRNA variant T/C snv 0.30 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1130233
rs1130233
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2014 2014
dbSNP: rs7679673
rs7679673
28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2010 2010
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2014 2014
dbSNP: rs17483466
rs17483466
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs3802842
rs3802842
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.700 1.000 1 2010 2010
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2013 2014
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.700 1.000 1 2010 2010
dbSNP: rs3740194
rs3740194
1 1.000 0.120 10 11255346 intron variant T/C snv 0.47 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 2011 2011
dbSNP: rs7804372
rs7804372
19 0.716 0.320 7 116554174 intron variant T/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs2089222
rs2089222
2 0.925 0.200 12 116564853 intron variant G/A snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs16892766
rs16892766
18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.700 1.000 1 2010 2010
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs498872
rs498872
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs3755557
rs3755557
6 0.807 0.280 3 120096110 non coding transcript exon variant T/A snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs11249433
rs11249433
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.700 1.000 1 2010 2010