Source: BEFREE ×
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
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 484
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 135
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 103
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 81
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 36
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv 25
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv 16
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36 11
rs121912665
TP53
1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 7
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 6
rs768824654
MSH2
1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 6
rs1441008398
APC
5 112839334 missense variant C/T snv 4.0E-06 4
rs876660427
APC
5 112838608 missense variant C/T snv 4
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
rs7987649
FLT1
0.925 0.080 13 28320278 intron variant A/G snv 0.35 4
rs587778966
MLH1
0.925 0.160 3 36996698 frameshift variant -/C delins 3