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: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.100 1.000 10 2003 2015
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.090 1.000 9 2005 2016
dbSNP: rs121913369
rs121913369
BRAF
12 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 9 2002 2013
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.090 1.000 9 2009 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.667 9 2001 2018
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.080 1.000 8 2006 2015
dbSNP: rs1057519719
rs1057519719
BRAF
2 1.000 0.080 7 140781593 missense variant T/C snv 0.700 1.000 8 2002 2013
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 8 2002 2013
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.880 1.000 8 2011 2019
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.080 0.875 8 2004 2017
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.750 0.857 7 2014 2018
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.070 0.857 7 2003 2019
dbSNP: rs1970764
rs1970764
PPP1R13L
4 0.851 0.120 19 45387615 intron variant T/C snv 0.27 0.070 1.000 7 2012 2019
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.070 1.000 7 2005 2019
dbSNP: rs3117582
rs3117582
BAG6 ; APOM
14 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.760 1.000 7 2008 2017
dbSNP: rs4488809
rs4488809
TP63
5 0.827 0.080 3 189638472 intron variant T/C snv 0.45 0.750 1.000 7 2011 2019
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.060 0.833 6 2004 2018
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.060 1.000 6 2005 2019
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.060 1.000 6 2012 2019
dbSNP: rs2240308
rs2240308
AXIN2
18 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 0.060 1.000 6 2006 2019
dbSNP: rs967591
rs967591
PPP1R13L ; CD3EAP
4 0.851 0.080 19 45406676 5 prime UTR variant G/A;C;T snv 0.22; 6.7E-06 0.060 1.000 6 2012 2018
dbSNP: rs121909071
rs121909071
SLC22A18
1 1.000 0.080 11 2918030 missense variant C/T snv 7.0E-06 0.800 1.000 5 2013 2014
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.050 1.000 5 2006 2015
dbSNP: rs31489
rs31489
CLPTM1L
10 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.050 1.000 5 2010 2014
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.050 0.800 5 2014 2018