Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs768824654
MSH2
1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 6
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 9
rs587778966
MLH1
0.925 0.160 3 36996698 frameshift variant -/C delins 3
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 11
rs1441008398
APC
5 112839334 missense variant C/T snv 4.0E-06 4
rs876660427
APC
5 112838608 missense variant C/T snv 4
rs1288422703
APC
5 112767386 missense variant G/A snv 4.0E-06 2
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs140516819
EGFR
7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04 4
rs35918369
EGFR
7 55205613 missense variant C/T snv 3.1E-04 3.3E-04 4
rs1219568637
EGFR
7 55143404 missense variant G/A snv 7.0E-06 2
rs4725431
PRKAG2
7 151776093 intron variant T/C snv 0.19 2
rs6964824
PRKAG2
7 151654146 intron variant T/C snv 0.31 2
rs1064793236
PMS2
7 5986802 missense variant C/T snv 7.0E-06 1
rs587780053
PMS2
7 5977698 missense variant C/T snv 8.0E-06 1.4E-05 1
rs730881913
PMS2
7 6004023 missense variant C/T snv 4.0E-06 1