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
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
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 17
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 15
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15