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: rs1259653415
rs1259653415
TFRC
3 1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs1374712964
rs1374712964
MUTYH
2 1.000 0.080 1 45332028 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1390902532
rs1390902532
CDKN2A
2 1.000 0.040 9 21968766 missense variant T/C snv 7.4E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs16999593
rs16999593
DNMT1
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs2423279
rs2423279 		10 0.790 0.080 20 7831703 downstream gene variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs3138053
rs3138053
NFKBIA
10 0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs373646414
rs373646414
DICER1
2 1.000 0.080 14 95132574 missense variant T/C snv 1.6E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs4444235
rs4444235 		23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2015 2015
dbSNP: rs7214723
rs7214723
CAMKK1
4 0.882 0.080 17 3872554 missense variant T/C snv 0.45 0.36 0.010 1.000 1 2013 2013
dbSNP: rs74751600
rs74751600
CHEK2
3 22 28695852 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs765189442
rs765189442
ABCB11
4 0.925 0.080 2 168995422 missense variant T/C snv 8.1E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs780634396
rs780634396
BCL2
5 0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs781490101
rs781490101
TP53
5 0.851 0.040 17 7673748 missense variant T/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs798766
rs798766
TACC3
6 0.851 0.120 4 1732512 intron variant T/C snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs8034191
rs8034191
HYKK
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.030 0.667 3 2012 2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 < 0.001 1 2010 2010
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2019 2019
dbSNP: rs267601394
rs267601394
EZH2
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.030 1.000 3 2014 2015