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: rs2269577
rs2269577
XBP1 ; ZNRF3
4 0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2013 2013
dbSNP: rs2835267
rs2835267
SETD4 ; LOC100133286
6 0.827 0.080 21 36074727 intron variant T/C snv 0.63 0.010 < 0.001 1 2017 2017
dbSNP: rs3787728
rs3787728
CBR1 ; SETD4 ; LOC100133286
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 < 0.001 1 2017 2017
dbSNP: rs755683317
rs755683317
TPTE
3 21 10567746 missense variant G/A;C snv 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2005 2010
dbSNP: rs11466345
rs11466345
TGFB1
2 1.000 0.080 19 41337556 intron variant T/C snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2005 2005
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs782212015
rs782212015
CEACAM5
1 19 41721077 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs125555
rs125555
MBD1
4 0.882 0.080 18 50273809 missense variant G/A;C snv 3.6E-05; 0.19 0.010 1.000 1 2005 2005
dbSNP: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs8305
rs8305
POLI
4 0.882 0.120 18 54294435 missense variant G/A snv 0.72 0.78 0.010 1.000 1 2005 2005
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.080 1.000 8 2007 2016
dbSNP: rs1131691021
rs1131691021
TP53
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.020 1.000 2 2014 2016
dbSNP: rs754332870
rs754332870
TP53
9 0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06 0.020 1.000 2 2016 2018
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1057519816
rs1057519816
ERBB2
14 0.763 0.200 17 39711955 missense variant C/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs121912665
rs121912665
TP53
7 1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1800372
rs1800372
TP53
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs372043866
rs372043866
ERBB2
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs3760396
rs3760396
CCL2
13 0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15 0.010 < 0.001 1 2016 2016
dbSNP: rs542027040
rs542027040
ERBB2 ; MIR4728
1 17 39724864 missense variant C/T snv 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs587782289
rs587782289
TP53
15 0.752 0.240 17 7674257 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005