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
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 135
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 106
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 83
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 62
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 47
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 45
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 43
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 42
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 40
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 40
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
rs1801725
CASR
0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 37
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 33
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 27
rs6505162
NSRP1 ; MIR3184 ; MIR423
0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 25
rs3803662
CASC16
0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 24