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 0.900 0.975 160 2004 2020
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.973 149 2004 2020
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.853 34 1997 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.806 31 2002 2019
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.900 0.964 28 2007 2019
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 0.913 23 2008 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.727 22 2006 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.750 20 2006 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.750 20 2006 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.100 0.800 15 2005 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.929 14 2003 2019
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.800 1.000 14 2002 2015
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.800 0.923 13 1999 2020
dbSNP: rs2020912
rs2020912
MSH6 ; FBXO11
7 0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03 0.710 1.000 13 1999 2012
dbSNP: rs267608140
rs267608140
MSH6 ; FBXO11
2 0.925 0.160 2 47806838 missense variant T/A;C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750157
rs63750157
MSH6 ; FBXO11
1 1.000 0.080 2 47804943 missense variant T/C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750287
rs63750287
MSH6 ; FBXO11
1 1.000 0.080 2 47801045 missense variant C/A;G snv 8.4E-06 0.700 1.000 12 1999 2012
dbSNP: rs63750358
rs63750358
MSH6 ; FBXO11
1 1.000 0.080 2 47800037 missense variant G/C snv 0.700 1.000 12 1999 2012
dbSNP: rs63750389
rs63750389
MSH6 ; FBXO11
2 0.925 0.160 2 47800532 missense variant A/G snv 8.0E-06 0.700 1.000 12 1999 2012
dbSNP: rs63750442
rs63750442
MSH6 ; FBXO11
1 1.000 0.080 2 47803546 missense variant C/G;T snv 7.6E-05; 4.0E-05 0.700 1.000 12 1999 2012
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
6 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 1.000 12 1999 2012
dbSNP: rs63750637
rs63750637
MSH6 ; FBXO11
1 1.000 0.080 2 47800343 missense variant C/G;T snv 0.700 1.000 12 1999 2012
dbSNP: rs63750664
rs63750664
MSH6
3 0.882 0.200 2 47783292 missense variant C/A;T snv 4.1E-06; 9.4E-05 0.700 1.000 12 1999 2012
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
8 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.700 1.000 12 1999 2012
dbSNP: rs137853148
rs137853148
PDGFRL
1 1.000 0.080 8 17589479 missense variant C/T snv 0.800 1.000 11 1995 2015