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: rs11224561
rs11224561
PGR
2 0.925 0.080 11 101034325 3 prime UTR variant C/A;T snv 0.020 1.000 2 2009 2011
dbSNP: rs471767
rs471767
PGR
2 0.925 0.080 11 101034566 3 prime UTR variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs1042838
rs1042838
PGR
12 0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs10895068
rs10895068
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs4851527
rs4851527
7 0.790 0.160 2 102005914 intron variant A/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs3218896
rs3218896
6 0.807 0.160 2 102015190 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2072472
rs2072472
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2475335
rs2475335
3 0.882 0.080 9 10260263 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1923357
rs1923357
1 1.000 0.080 9 10266786 intron variant C/T snv 0.72 0.700 1.000 1 2018 2018
dbSNP: rs743572
rs743572
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.020 1.000 2 2008 2013
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2012 2012
dbSNP: rs2498801
rs2498801
7 0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs1200003171
rs1200003171
4 0.882 0.120 14 104775122 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2498796
rs2498796
1 1.000 0.080 14 104776883 non coding transcript exon variant G/A snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs2494737
rs2494737
2 0.925 0.080 14 104779988 intron variant T/A snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.020 1.000 2 2009 2010
dbSNP: rs74090038
rs74090038
2 0.925 0.080 14 104796444 upstream gene variant C/T snv 0.29 0.010 < 0.001 1 2015 2015
dbSNP: rs2494750
rs2494750
2 0.925 0.080 14 104796575 upstream gene variant G/C snv 0.86 0.010 < 0.001 1 2015 2015
dbSNP: rs72715985
rs72715985
2 0.925 0.080 14 104797210 upstream gene variant C/T snv 2.6E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1048290
rs1048290
4 0.851 0.160 19 10489766 synonymous variant G/C snv 0.41 0.48 0.010 1.000 1 2011 2011
dbSNP: rs7679673
rs7679673
28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs4987886
rs4987886
ATM
2 0.925 0.080 11 108225326 5 prime UTR variant A/T snv 3.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs1805097
rs1805097
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.710 1.000 2 2015 2018