Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs3025058
MMP3
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 26
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv 11
rs397517108
EGFR ; EGFR-AS1
0.790 0.120 7 55181312 missense variant GC/TT mnv 9
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs1799750
WTAPP1 ; MMP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs2066847
NOD2
0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 18
rs28360071
XRCC4
0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs28360317
XRCC4
0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs1799732
DRD2 ; LOC105369501
0.790 0.160 11 113475529 intron variant -/G delins 11
rs10680577
RAB4B-EGLN2 ; EGLN2
0.776 0.160 19 40798690 intron variant -/TACT delins 10
rs1205454520
KLLN ; PTEN
0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 10
rs1322648460
LOC100507144 ; CD44
0.776 0.320 11 35139332 frameshift variant G/- delins 9
rs1131691022
TP53
0.827 0.160 17 7670685 frameshift variant GG/A;G delins 6
rs3842530
MIR205 ; MIR205HG
0.827 0.120 1 209432292 non coding transcript exon variant GCAGCAGCAGCAGCAGCAGCAGCAGCA/-;GCA;GCAGCA;GCAGCAGCA;GCAGCAGCAGCA;GCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA delins 5
rs1321845532
TP53
0.851 0.160 17 7670685 frameshift variant GG/A;G delins 4
rs11453459
PPP2R1A
0.882 0.080 19 52189696 upstream gene variant -/G delins 3
rs5883064
HOTTIP
0.882 0.080 7 27202260 non coding transcript exon variant CT/- delins 0.85 3
rs9280508
TRIM27
0.882 0.080 6 28914582 intron variant GG/-;G;GGG;GGGG;GGGGG;GGGGGG delins 3