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: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2008 2016
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.030 1.000 3 2013 2017
dbSNP: rs1800975
rs1800975
XPA
19 0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 0.030 1.000 3 2011 2018
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.030 1.000 3 2007 2015
dbSNP: rs2298881
rs2298881
ERCC1
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.030 1.000 3 2011 2014
dbSNP: rs2352028
rs2352028
GPC5
6 0.851 0.080 13 91792975 intron variant C/G;T snv 0.030 1.000 3 2010 2015
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.030 0.667 3 1993 2019
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.030 1.000 3 2011 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 0.030 1.000 3 2006 2016
dbSNP: rs4645981
rs4645981
CASP9 ; DNAJC16
11 0.790 0.160 1 15524988 intron variant G/A;C snv 0.030 1.000 3 2010 2013
dbSNP: rs560191
rs560191
TP53BP1
12 0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06 0.030 1.000 3 2010 2011
dbSNP: rs664143
rs664143
ATM ; C11orf65
8 0.807 0.160 11 108354934 3 prime UTR variant A/G;T snv 0.030 1.000 3 2012 2017
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.030 1.000 3 2014 2017
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.030 1.000 3 2004 2011
dbSNP: rs931794
rs931794
HYKK
7 0.851 0.080 15 78533838 3 prime UTR variant G/A;C snv 0.030 1.000 3 2009 2015
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2007 2015
dbSNP: rs11540478
rs11540478
IDH2
4 0.851 0.080 15 90085305 synonymous variant G/A;C snv 3.5E-02; 6.4E-06 0.020 1.000 2 2017 2018
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.020 0.500 2 1993 2019
dbSNP: rs125555
rs125555
MBD1
4 0.882 0.080 18 50273809 missense variant G/A;C snv 3.6E-05; 0.19 0.020 1.000 2 2005 2008
dbSNP: rs1326656542
rs1326656542
LIG4
10 0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06 0.020 1.000 2 2004 2012
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.020 1.000 2 2014 2018
dbSNP: rs1625895
rs1625895
TP53
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.020 1.000 2 2007 2007
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2006 2014
dbSNP: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.020 0.500 2 2007 2011
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.020 1.000 2 2016 2019