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: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs745564626
rs745564626
14 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs4135113
rs4135113
TDG
5 0.925 0.080 12 103982915 missense variant G/A;C;T snv 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs12498609
rs12498609
1 4 105234028 missense variant C/G;T snv 6.3E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2454206
rs2454206
6 0.851 0.160 4 105275794 missense variant A/G;T snv 0.30; 6.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1805388
rs1805388
11 0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16 0.010 1.000 1 2016 2016
dbSNP: rs587779821
rs587779821
ATM
2 1.000 0.080 11 108259059 missense variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs228593
rs228593
ATM
1 11 108270407 intron variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs397507548
rs397507548
6 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2010 2010
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs1178981336
rs1178981336
2 1.000 0.040 9 113424228 frameshift variant -/G delins 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs387906631
rs387906631
6 0.882 0.080 3 128481901 missense variant G/A snv 0.820 1.000 2 2011 2012
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2019 2019
dbSNP: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs2308327
rs2308327
10 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs867679539
rs867679539
3 0.925 0.080 X 130013883 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1800067
rs1800067
17 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs775743629
rs775743629
1 6 162262719 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs751689316
rs751689316
4 0.925 0.080 3 169131510 missense variant C/T snv 1.2E-05 0.020 1.000 2 2008 2013
dbSNP: rs869312828
rs869312828
7 0.807 0.080 5 177512369 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs752746786
rs752746786
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0