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: rs608995
rs608995
PGR
3 0.882 0.120 11 101035002 3 prime UTR variant A/T snv 0.27 0.010 1.000 1 2005 2005
dbSNP: rs1456079929
rs1456079929
PGR
5 0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1042838
rs1042838
PGR
12 0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06 0.030 1.000 3 2001 2015
dbSNP: rs750042441
rs750042441
5 0.827 0.160 11 101128367 missense variant G/A;C snv 6.1E-05; 4.3E-06 0.010 1.000 1 2015 2015
dbSNP: rs2228611
rs2228611
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2013 2013
dbSNP: rs759920
rs759920
3 0.882 0.120 19 10174102 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2015 2015
dbSNP: rs230521
rs230521
4 0.851 0.160 4 102542171 intron variant C/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs4648068
rs4648068
9 0.790 0.240 4 102597148 intron variant A/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2015 2015
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2016 2016
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 0.667 3 2014 2016
dbSNP: rs200182588
rs200182588
6 0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs4925
rs4925
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2010 2010
dbSNP: rs2297235
rs2297235
11 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs156697
rs156697
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.030 1.000 3 2007 2008
dbSNP: rs873330
rs873330
3 0.882 0.120 13 104807897 intergenic variant A/G snv 0.31 0.010 1.000 1 2012 2012
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 2015 2015
dbSNP: rs869312756
rs869312756
ATM
3 0.925 0.320 11 108307985 splice donor variant G/A;T snv 0.700 0
dbSNP: rs638820
rs638820
5 0.827 0.160 1 109667284 intron variant G/A snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs186724
rs186724
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2014 2014