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: rs1429743956
rs1429743956
TP53
3 0.882 0.080 17 7674906 stop gained T/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2006 2006
dbSNP: rs1862214
rs1862214 		4 0.882 0.080 19 32544943 intergenic variant G/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2006 2006
dbSNP: rs3781620
rs3781620
DDB2
3 0.882 0.080 11 47237713 splice donor variant G/C snv 0.27 0.010 1.000 1 2006 2006
dbSNP: rs652438
rs652438
MMP12
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 1.000 1 2006 2006
dbSNP: rs775057330
rs775057330
CASC1
5 0.851 0.080 12 25149651 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs7969931
rs7969931
LRMP
5 0.851 0.080 12 25089661 missense variant C/A;G snv 1.6E-05; 0.75 0.010 1.000 1 2006 2006
dbSNP: rs830083
rs830083
DDB2
6 0.807 0.120 11 47232500 intron variant G/A;C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs868188
rs868188
ARHGEF11 ; LRRC71 ; MIR765
3 0.882 0.080 1 156937323 missense variant T/C snv 0.40 0.33 0.010 1.000 1 2006 2006
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: rs376040996
rs376040996
XPA
7 0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 0.020 1.000 2 2004 2007
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.020 1.000 2 2005 2007
dbSNP: rs1043973338
rs1043973338
IL1B
3 0.882 0.080 2 112830483 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs10508266
rs10508266 		3 0.882 0.080 10 3797822 intergenic variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs12951053
rs12951053
TP53
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2007 2007
dbSNP: rs1408543226
rs1408543226
XPA
6 0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1423493595
rs1423493595
UBE2V1 ; TMEM189-UBE2V1
5 0.851 0.080 20 50082836 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs149518139
rs149518139
ABCB1
3 0.882 0.080 7 87566852 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2007 2007
dbSNP: rs183167499
rs183167499
XPC
3 0.882 0.080 3 14146131 missense variant G/A;C snv 8.2E-06; 1.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs200100285
rs200100285
MTHFR
4 0.851 0.080 1 11796313 missense variant T/C;G snv 1.9E-04 0.010 1.000 1 2007 2007
dbSNP: rs2180314
rs2180314
GSTA2
8 0.776 0.200 6 52752933 missense variant C/G snv 0.60 0.52 0.010 1.000 1 2007 2007