Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1049074086
CTSD
0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 9
rs1057519736
IDH2
0.752 0.160 15 90088605 missense variant C/G snv 13
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv 10
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
rs1057519855
HRAS ; LRRC56
0.776 0.120 11 533873 missense variant CT/AC;TC mnv 11
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 14
rs1057520030
MET
7 116777427 missense variant A/G;T snv 1
rs1057520039
STK11
0.882 0.200 19 1207169 stop gained C/G;T snv 4
rs1060503115
PMS2
0.763 0.400 7 5978664 missense variant T/A;G snv 13
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs121434265
LOC101929160 ; CDC73
0.925 0.080 1 193125142 stop gained C/G snv 3
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 44
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 37
rs121913245
MET
0.925 0.120 7 116783420 missense variant T/C snv 3
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv 7
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 44