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 0.100 0.909 11 2000 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.050 0.800 5 1998 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 2003 2007
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.020 1.000 2 2002 2019
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 < 0.001 1 2012 2012
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: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2010 2010
dbSNP: rs12144319
rs12144319
TTC22
10 0.776 0.080 1 54780362 3 prime UTR variant T/C snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs1346600942
rs1346600942
EPHX1
1 1.000 0.080 1 225838845 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs17011141
rs17011141
LINC02257
10 0.776 0.080 1 221939292 intron variant A/G snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494
SF3A3
12 0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6678517
rs6678517
LAMC1
10 0.776 0.080 1 183033504 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2005 2005
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 2006 2006
dbSNP: rs11884596
rs11884596
LOC105373831
10 0.776 0.080 2 198747683 intron variant T/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs11903757
rs11903757 		11 0.763 0.160 2 191722478 intron variant T/C snv 0.16 0.010 1.000 1 2016 2016
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 2006 2006
dbSNP: rs288326
rs288326
FRZB
9 0.807 0.120 2 182838608 missense variant G/A snv 8.2E-02 8.3E-02 0.010 1.000 1 2009 2009
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
10 0.776 0.080 2 218326533 intron variant T/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs448513
rs448513
TANC1
10 0.776 0.080 2 159108040 intron variant T/C snv 0.41 0.700 1.000 1 2019 2019