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: rs751295137
rs751295137
EGFR
6 0.851 0.160 7 55152582 missense variant G/A snv 8.0E-06 7.0E-06 0.020 1.000 2 2007 2010
dbSNP: rs760101437
rs760101437
EGFR
6 0.851 0.160 7 55154018 missense variant G/A snv 3.2E-05 1.4E-05 0.020 1.000 2 2007 2010
dbSNP: rs1126667
rs1126667
ALOX12 ; ALOX12-AS1
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2007 2007
dbSNP: rs1200003171
rs1200003171
AKT1
4 0.882 0.120 14 104775122 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 1.000 1 2007 2007
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs764058037
rs764058037
AKT2
1 1.000 0.080 19 40241984 missense variant C/A;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs56250509
rs56250509
MLH1
10 0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05 0.030 1.000 3 2008 2012
dbSNP: rs773919809
rs773919809
MGMT
13 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 0.030 1.000 3 2008 2012
dbSNP: rs1206093523
rs1206093523
TGFBR2 ; LOC105377015
1 1.000 0.080 3 30606915 missense variant C/T snv 9.2E-06 0.010 1.000 1 2008 2008
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2008 2008
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2008 2008
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2008 2008
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs766958673
rs766958673
CBS
4 0.851 0.120 21 43066293 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.090 1.000 9 2009 2019
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.080 1.000 8 2009 2019
dbSNP: rs3218625
rs3218625
PTGS2
2 0.925 0.240 1 186674409 missense variant C/T snv 1.6E-03 5.0E-04 0.010 1.000 1 2009 2009
dbSNP: rs3829868
rs3829868
CRNN ; FLG-AS1
2 0.925 0.080 1 152409644 missense variant C/T snv 0.21 0.15 0.010 1.000 1 2009 2009
dbSNP: rs7087131
rs7087131
MGMT
1 1.000 0.080 10 129676210 intron variant G/A snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.800 1.000 18 2010 2019
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.060 1.000 6 2010 2019
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.040 0.750 4 2010 2019
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.020 0.500 2 2010 2013