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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.943 35 2004 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.943 35 2004 2019
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.750 1.000 12 2007 2019
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 11 2012 2018
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.800 10 1997 2004
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2004 2014
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.050 1.000 5 2006 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.500 4 2005 2009
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
dbSNP: rs6066825
rs6066825
PREX1
10 0.776 0.080 20 48723580 intron variant A/G;T snv 0.700 1.000 4 2015 2019
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.040 0.750 4 2008 2017
dbSNP: rs1078643
rs1078643
TMEM238L ; TMEM220-AS1
10 0.776 0.080 17 10803924 missense variant G/A;C snv 0.700 1.000 3 2019 2019
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.030 0.667 3 2005 2010
dbSNP: rs6469656
rs6469656 		9 0.790 0.080 8 116635549 regulatory region variant G/A;C snv 0.700 1.000 3 2014 2019
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.030 1.000 3 2008 2013
dbSNP: rs909797662
rs909797662
EGFR
8 0.790 0.120 7 55191837 missense variant G/A snv 0.030 1.000 3 2015 2018
dbSNP: rs1042821
rs1042821
MSH6
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.020 1.000 2 2009 2009
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2006 2018
dbSNP: rs12412391
rs12412391
LINC01475
9 0.790 0.080 10 99529178 intron variant A/G;T snv 0.700 1.000 2 2014 2016
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.020 1.000 2 2011 2012
dbSNP: rs35107139
rs35107139
BMP4
11 0.776 0.080 14 53952388 intron variant A/C;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs45597035
rs45597035
KLF5
10 0.776 0.080 13 73075014 intron variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2011 2016
dbSNP: rs7226855
rs7226855
SMAD7
9 0.790 0.080 18 48927678 intron variant A/G;T snv 0.700 1.000 2 2015 2019
dbSNP: rs10152518
rs10152518 		9 0.790 0.080 15 67884824 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019