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 0.770 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: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2008 2008
dbSNP: rs1057519803
rs1057519803
ERBB3
4 0.925 0.080 12 56088138 missense variant G/A snv 0.700 1.000 1 2013 2013
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: 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: rs1288422703
rs1288422703
APC
2 5 112767386 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1441008398
rs1441008398
APC
4 5 112839334 missense variant C/T snv 4.0E-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: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
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: rs587778966
rs587778966
MLH1
3 0.925 0.160 3 36996698 frameshift variant -/C delins 0.010 1.000 1 2015 2015
dbSNP: rs63750206
rs63750206
MLH1
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs730881913
rs730881913
PMS2
1 7 6004023 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs772468040
rs772468040
FLT3
2 13 28057413 missense variant C/G;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs779512948
rs779512948
PMS2
1 7 5989800 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs876660427
rs876660427
APC
4 5 112838608 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2005 2005
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
dbSNP: rs35918369
rs35918369
EGFR
4 7 55205613 missense variant C/T snv 3.1E-04 3.3E-04 0.010 1.000 1 2017 2017