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: rs2297235
rs2297235
GSTO2
11 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2018 2018
dbSNP: rs876661024
rs876661024
PTEN
11 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 0.700 0
dbSNP: rs1540087
rs1540087
FOLR1
2 1.000 0.080 11 72190447 5 prime UTR variant G/A snv 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2006 2006
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
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 2007 2007
dbSNP: rs3790064
rs3790064
PNP
1 14 20472910 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2011 2011
dbSNP: rs12919719
rs12919719
CDH1
1 16 68788438 intron variant C/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs7196495
rs7196495
CDH1
1 16 68739957 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7196661
rs7196661
CDH1
1 16 68740009 intron variant C/T snv 0.80 0.010 1.000 1 2012 2012
dbSNP: rs9989407
rs9989407 		1 16 68730609 intergenic variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2006 2006
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs113835371
rs113835371
XYLT2
1 17 50353660 missense variant G/A snv 9.3E-03 1.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs2278952
rs2278952
PEMT
2 1.000 0.080 17 17582270 5 prime UTR variant G/A snv 5.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs6504649
rs6504649
XYLT2
4 0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2006 2006
dbSNP: rs897453
rs897453
PEMT
2 1.000 0.080 17 17522317 missense variant C/A;G;T snv 8.0E-06; 0.34 0.010 1.000 1 2015 2015
dbSNP: rs1001761
rs1001761
TYMS
2 1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55 0.010 1.000 1 2018 2018
dbSNP: rs1043673
rs1043673
NLRP2
2 19 55000864 missense variant C/A snv 0.37 0.39 0.010 1.000 1 2013 2013
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2007 2007
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2010 2010