Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10941679 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 11
rs7716600 0.925 0.080 5 44874903 regulatory region variant A/C;T snv 4
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv 8
rs730881360
ATM
11 108227629 missense variant G/A;C snv 1
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
rs28997576
BARD1
0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 11
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 5
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 10
rs28897696
BRCA1
0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 7
rs41293463
BRCA1
0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 6
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 6
rs80357086
BRCA1
0.851 0.200 17 43106480 stop gained A/G;T snv 5
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 2
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 2
rs273898674
BRCA1
0.925 0.200 17 43093472 stop gained G/A snv 1
rs55680408
BRCA1
17 43095875 missense variant T/A;C snv 3.6E-05 2.8E-05 1
rs80356923
BRCA1
0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 1
rs80357034
BRCA1
0.882 0.200 17 43067610 missense variant G/A;C;T snv 1
rs80357635
BRCA1
0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 1
rs80358920
BRCA2
0.732 0.400 13 32346841 stop gained C/G;T snv 2
rs397507828
BRCA2
1.000 13 32340440 stop gained G/T snv 1
rs587782137
BRCA2
13 32316471 missense variant G/A;C snv 2.4E-05 1
rs1057519825
BTK
0.882 0.120 X 101356176 missense variant C/G snv 6
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv 6