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: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.020 1.000 2 2006 2012
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 0.010 1.000 1 2006 2006
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2006 2006
dbSNP: rs145733073
rs145733073
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
2 0.925 0.120 2 233682175 missense variant T/C;G snv 4.0E-06; 1.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs782095550
rs782095550
MANF
2 0.925 0.120 3 51386267 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.060 0.833 6 2007 2019
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1176026649
rs1176026649
PALLD ; CBR4
4 0.851 0.120 4 168921582 missense variant C/T snv 7.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs1339638227
rs1339638227
CDKN2A
2 0.925 0.120 9 21971119 missense variant T/C snv 4.3E-06 0.010 1.000 1 2007 2007
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2007 2007
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2008 2011
dbSNP: rs111033565
rs111033565
PRSS1
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1555525012
rs1555525012
TP53
3 0.882 0.200 17 7673603 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2008 2008
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.010 1.000 1 2008 2008
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs786204195
rs786204195
CDKN2A
4 0.851 0.200 9 21974686 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.740 1.000 4 2009 2015
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 1.000 2 2009 2010
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2009 2014
dbSNP: rs35385902
rs35385902
ADH1B ; ADH1C
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.020 1.000 2 2009 2010