Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3218536
XRCC2
0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs768623239
GSTM1 ; GSTM2
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 23
rs16917496
KMT5A
0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 21
rs7958904
HOTAIR
0.724 0.200 12 53963768 non coding transcript exon variant C/A;G snv 15
rs6165
FSHR
0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 14
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 11
rs7977932
LRRC43 ; IL31
0.763 0.320 12 122172836 intron variant C/G;T snv 10
rs2303428
MSH2
0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 9
rs4758680
LRRC43
0.763 0.320 12 122170805 intron variant T/A;G snv 9
rs80357138
BRCA1
0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 9
rs7405776
HNF1B
0.807 0.120 17 37733029 intron variant G/A;C snv 6
rs757210
HNF1B
0.807 0.160 17 37736525 intron variant C/G;T snv 6
rs1456079929
PGR
0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06 5