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: rs63750447
rs63750447
MLH1
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.010 1.000 1 2003 2003
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.100 0.636 22 2004 2019
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.100 0.813 16 2004 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: 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: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.050 0.800 5 2004 2017
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.040 0.750 4 2004 2012
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.040 0.750 4 2004 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: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.020 0.500 2 2004 2006
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: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.020 1.000 2 2004 2009
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: rs1060503291
rs1060503291
APC
3 0.882 0.080 5 112835135 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs140118273
rs140118273
MUTYH
3 0.882 0.080 1 45329412 missense variant G/A;C snv 8.4E-03 0.010 1.000 1 2004 2004
dbSNP: rs3219484
rs3219484
MUTYH
7 0.807 0.160 1 45334484 missense variant C/A;T snv 4.8E-02 4.8E-02 0.010 1.000 1 2004 2004
dbSNP: rs764643047
rs764643047
OGG1
5 0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs775439790
rs775439790
OGG1 ; CAMK1
4 0.851 0.080 3 9765858 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs776197565
rs776197565
APC
5 0.827 0.120 5 112819214 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 0.980 102 2005 2019
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: 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: 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: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.040 1.000 4 2005 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