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: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.020 < 0.001 2 2008 2013
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs10484761
rs10484761 		7 0.807 0.080 6 40834522 intergenic variant T/C snv 0.31 0.010 < 0.001 1 2013 2013
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 < 0.001 1 2014 2014
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 < 0.001 1 2019 2019
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 < 0.001 1 2014 2014
dbSNP: rs2014300
rs2014300
RUNX1
5 0.851 0.080 21 34985564 intron variant A/G;T snv 0.75 0.010 < 0.001 1 2013 2013
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 < 0.001 1 2014 2014
dbSNP: rs2233406
rs2233406
NFKBIA
12 0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26 0.010 < 0.001 1 2019 2019
dbSNP: rs2285947
rs2285947
DNAH11
7 0.807 0.120 7 21544470 intron variant G/A snv 0.44 0.010 < 0.001 1 2015 2015
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 < 0.001 1 2015 2015
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 < 0.001 1 2015 2015
dbSNP: rs4767364
rs4767364
NAA25
8 0.807 0.160 12 112083644 intron variant G/A snv 0.45 0.010 < 0.001 1 2013 2013
dbSNP: rs578776
rs578776
CHRNA3
13 0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39 0.010 < 0.001 1 2019 2019
dbSNP: rs752153816
rs752153816
VEGFA
3 0.882 0.120 6 43780848 missense variant G/A;C snv 4.0E-06; 4.0E-06; 1.2E-05; 3.6E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs971074
rs971074
ADH7
3 0.925 0.040 4 99420704 synonymous variant C/T snv 0.12 0.13 0.010 < 0.001 1 2013 2013
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 0.333 3 2013 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 0.400 5 2007 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 0.500 4 2011 2014
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.040 0.500 4 2008 2019
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.040 0.500 4 2009 2014
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.070 0.571 7 2005 2014
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2010 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2009 2012