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: rs12970291
rs12970291
12 0.763 0.120 18 75305279 intergenic variant G/A snv 2.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs1740828
rs1740828
2 0.925 0.080 6 21648854 regulatory region variant G/A snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.010 < 0.001 1 2011 2011
dbSNP: rs2046210
rs2046210
21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs605965
rs605965
2 0.925 0.080 6 75723198 downstream gene variant T/A snv 2.3E-02 0.010 1.000 1 2008 2008
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: rs889312
rs889312
14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs1063539
rs1063539
5 0.827 0.360 3 186857603 3 prime UTR variant G/A;C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2004 2004
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: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
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: 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: 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: 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: rs892119
rs892119
2 0.925 0.080 19 40254165 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1204038
rs1204038
AR
3 0.882 0.160 X 67568383 intron variant G/A snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs6152
rs6152
AR
9 0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28 0.010 1.000 1 2009 2009
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: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs3768235
rs3768235
2 0.925 0.080 1 85267691 missense variant C/T snv 8.0E-06; 6.5E-02 4.5E-02 0.010 1.000 1 2001 2001
dbSNP: rs9904341
rs9904341
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.010 1.000 1 2015 2015