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: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.760 0.857 7 2010 2019
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.050 1.000 5 2000 2009
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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2006 2006
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.020 1.000 2 2016 2019
dbSNP: rs11255841
rs11255841 		11 0.776 0.080 10 8697617 intergenic variant T/A snv 0.25 0.710 1.000 2 2019 2019
dbSNP: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.020 1.000 2 2012 2012
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.710 1.000 2 2015 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2005 2012
dbSNP: rs1799853
rs1799853
CYP2C9
11 0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02 0.020 1.000 2 2006 2014
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.020 1.000 2 2012 2012
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.020 1.000 2 2005 2005
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: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2005 2006
dbSNP: rs10049390
rs10049390
SLCO2A1
10 0.776 0.080 3 133982275 intron variant G/A snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs10246939
rs10246939
TAS2R38 ; MGAM
6 0.851 0.240 7 141972804 missense variant T/C snv 0.49 0.47 0.010 1.000 1 2013 2013
dbSNP: rs10318
rs10318
GREM1
3 0.882 0.080 15 32733778 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2004 2004
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: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2005 2005
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1078643
rs1078643
TMEM238L ; TMEM220-AS1
10 0.776 0.080 17 10803924 missense variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10795668
rs10795668
LOC105376400
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.010 1.000 1 2019 2019