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: rs12953717
rs12953717
SMAD7
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs1961177
rs1961177
CYP19A1
1 15 51332881 intron variant C/T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs4725431
rs4725431
PRKAG2
2 7 151776093 intron variant T/C snv 0.19 0.010 1.000 1 2010 2010
dbSNP: rs4771249
rs4771249
FLT1
2 13 28439277 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs56848936
rs56848936
SYMPK
11 0.776 0.080 19 45818249 intron variant A/G snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs6964824
rs6964824
PRKAG2
2 7 151654146 intron variant T/C snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs7987649
rs7987649
FLT1
4 0.925 0.080 13 28320278 intron variant A/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs4812219
rs4812219 		1 20 60847915 intergenic variant C/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs121913331
rs121913331
APC
11 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs201744589
rs201744589
TP53
6 0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.770 0.875 8 2003 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.770 0.875 8 2003 2017
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 0.500 2 1999 2005
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 1.000 2 2003 2005
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.020 1.000 2 2012 2014
dbSNP: rs1057519803
rs1057519803
ERBB3
4 0.925 0.080 12 56088138 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1064793236
rs1064793236
PMS2
1 7 5986802 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs112431538
rs112431538
TP53
4 1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912665
rs121912665
TP53
7 1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1219568637
rs1219568637
EGFR
2 7 55143404 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1288422703
rs1288422703
APC
2 5 112767386 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs140516819
rs140516819
EGFR
4 7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04 0.010 1.000 1 2017 2017