Source: ALL
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 12
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 38
rs28997576
BARD1
0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 11
rs1553622530
BARD1
2 214781220 stop gained C/T snv 1
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 16
rs28897696
BRCA1
0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 11
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 11
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs41293463
BRCA1
0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 9
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 8
rs80356962
BRCA1
0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06 8
rs80357086
BRCA1
0.851 0.200 17 43106480 stop gained A/G;T snv 8
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 8
rs80356978
BRCA1
0.827 0.200 17 43092809 stop gained C/A;T snv 7
rs80357123
BRCA1
0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05 7
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv 7
rs41293465
BRCA1
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 6
rs1800747
BRCA1
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv 5
rs80356923
BRCA1
0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 5
rs80357034
BRCA1
0.882 0.200 17 43067610 missense variant G/A;C;T snv 5