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: 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: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.030 1.000 3 2010 2015
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: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.020 1.000 2 2010 2018
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: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.020 1.000 2 2010 2012
dbSNP: rs1057517457
rs1057517457
MUTYH
6 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.010 1.000 1 2013 2013
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: rs370574590
rs370574590
PCSK9
2 1.000 0.080 1 55058628 missense variant G/A;T snv 3.2E-05; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
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: 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: rs1042821
rs1042821
MSH6
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.010 1.000 1 2006 2006
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2012 2012
dbSNP: rs121912535
rs121912535
LHCGR ; GTF2A1L ; STON1-GTF2A1L
6 0.827 0.240 2 48688427 missense variant A/C snv 0.010 1.000 1 2000 2000
dbSNP: rs2070959
rs2070959
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
16 0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30 0.010 1.000 1 2012 2012
dbSNP: rs2302615
rs2302615
ODC1 ; SNORA80B ; ODC1-DT
7 0.807 0.120 2 10448012 intron variant C/T snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs4952490
rs4952490
SLC8A1 ; SLC8A1-AS1
2 1.000 0.080 2 40145564 intron variant A/G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs536562413
rs536562413
MSH6 ; FBXO11
15 0.732 0.240 2 47799934 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2006 2006
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: 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: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 < 0.001 1 2005 2005
dbSNP: rs1201299
rs1201299
TBL1XR1
1 3 177053096 intron variant C/T snv 1.7E-02 0.010 1.000 1 2018 2018