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: rs383830
rs383830
3 0.882 0.040 5 100613278 intergenic variant A/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs763802417
rs763802417
5 0.882 0.040 X 100862805 missense variant G/A snv 5.9E-06 0.010 1.000 1 2016 2016
dbSNP: rs2227631
rs2227631
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.030 1.000 3 2003 2011
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.030 0.667 3 2007 2016
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2016 2016
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2019 2019
dbSNP: rs679620
rs679620
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.010 1.000 1 2009 2009
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.060 0.833 6 2004 2018
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs10903323
rs10903323
8 0.807 0.160 8 10292057 intron variant A/G snv 0.15 0.020 1.000 2 2012 2013
dbSNP: rs640198
rs640198
4 0.851 0.040 11 102954362 intron variant T/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs974819
rs974819
6 0.807 0.080 11 103789839 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs146292819
rs146292819
9 0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs1239681664
rs1239681664
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs4149313
rs4149313
9 0.763 0.240 9 104824472 missense variant T/C snv 0.030 1.000 3 2013 2019
dbSNP: rs532997003
rs532997003
3 0.882 0.040 9 104840464 missense variant T/C snv 2.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs9282541
rs9282541
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.090 1.000 9 2003 2019
dbSNP: rs2288904
rs2288904
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.010 1.000 1 2016 2016
dbSNP: rs9797861
rs9797861
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs342293
rs342293
7 0.882 0.040 7 106731773 intron variant C/G snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.010 1.000 1 2018 2018