Source: ALL
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
PGR ; PGR-AS1
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
DNMT1
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
DNMT1
3 0.882 0.120 19 10174102 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs111970895
rs111970895 		1 1.000 0.120 5 102301953 upstream gene variant -/AAA;AAAAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2015 2015
dbSNP: rs230521
rs230521
NFKB1
4 0.851 0.160 4 102542171 intron variant C/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs4648068
rs4648068
NFKB1
9 0.790 0.240 4 102597148 intron variant A/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2015 2015
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
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
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 0.500 2 2014 2014
dbSNP: rs141752671
rs141752671 		17 0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs148883465
rs148883465 		17 0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs200182588
rs200182588
SMC2 ; SMC2-AS1
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
GSTO1
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
GSTO2
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
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs873330
rs873330
LOC107984606
3 0.882 0.120 13 104807897 intergenic variant A/G snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs1565416788
rs1565416788
ATM
1 1.000 0.120 11 108267302 frameshift variant TAGTGATGCAAAC/- del 0.700 0
dbSNP: rs1060501687
rs1060501687
ATM
2 0.925 0.320 11 108272782 stop gained G/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs587779834
rs587779834
ATM
3 0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05 0.700 0
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