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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2007 2007
dbSNP: rs770460061
rs770460061
GSTP1
14 0.742 0.240 11 67585239 missense variant T/C;G snv 4.0E-06; 1.2E-05 0.010 1.000 1 2007 2007
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 2001 2008
dbSNP: rs10505476
rs10505476
POU5F1B ; CASC8 ; PCAT1
3 8 127395871 intron variant C/T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs10808555
rs10808555
POU5F1B ; CASC8 ; PCAT1
6 0.925 0.080 8 127397266 intron variant G/A snv 0.65 0.010 1.000 1 2008 2008
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs2276020
rs2276020
AIP ; MIR6752
2 1.000 0.120 11 67490085 missense variant C/G;T snv 3.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs746497256
rs746497256
NFE2L2
3 0.925 0.080 2 177231925 synonymous variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs7837328
rs7837328
POU5F1B ; CASC8 ; PCAT1
8 0.882 0.120 8 127410882 intron variant A/G snv 0.52 0.010 1.000 1 2008 2008
dbSNP: rs1799732
rs1799732
DRD2 ; LOC105369501
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2009 2009
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2009 2009
dbSNP: rs4648310
rs4648310
PTGS2
1 1 186671393 downstream gene variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs774679649
rs774679649
CRP
1 1 159713878 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs939481814
rs939481814
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 2 233767063 synonymous variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs719725
rs719725 		7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.010 < 0.001 1 2010 2010
dbSNP: rs121912532
rs121912532
LHCGR ; GTF2A1L ; STON1-GTF2A1L
12 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.030 1.000 3 2000 2011
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.020 1.000 2 2007 2011
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.020 1.000 2 2007 2011
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs1060503115
rs1060503115
PMS2
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs17503908
rs17503908
ATM ; C11orf65
2 1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02 0.010 1.000 1 2011 2011