Disease: Breast Carcinoma
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
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
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 34
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1131691036
TP53
0.851 0.080 17 7675207 frameshift variant GCA/CC delins 8
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 34
rs1172398253
CCN1
0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06 4
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
rs12190287
TCF21
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 19
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 44
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs1219211410
CDC25B
0.925 0.080 20 3800494 missense variant T/C snv 3
rs1285136498
NR3C1
0.807 0.080 5 143400101 missense variant G/A snv 13
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1364963022
ESR1
0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06 4
rs1412125
HMGB1
0.724 0.360 13 30467458 intron variant C/G;T snv 17
rs1458766475
C1orf112 ; SELE
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs17577
SLC12A5-AS1 ; MMP9
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 31
rs1760944
OSGEP ; APEX1
0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26