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: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.030 1.000 3 2008 2015
dbSNP: rs12910984
rs12910984
CHRNA3
8 0.827 0.080 15 78599285 intron variant G/A;C;T snv 0.710 1.000 3 2009 2012
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.030 1.000 3 2009 2014
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: rs4887053
rs4887053 		4 0.925 0.080 15 78420357 regulatory region variant A/C;T snv 0.700 1.000 3 2008 2012
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: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.030 1.000 3 2012 2016
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: rs1057519861
rs1057519861
EGFR ; EGFR-AS1
15 0.776 0.080 7 55181398 missense variant T/A snv 0.020 1.000 2 2017 2019
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