Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs799917
BRCA1
0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 18
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 16
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 13
rs41293459
BRCA1
0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 12
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
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 11
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 11
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 11
rs55770810
BRCA1
0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 10
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 10
rs397508986
BRCA1
0.807 0.280 17 43092919 frameshift variant G/AA delins 9
rs41293463
BRCA1
0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 9
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv 9
rs80357138
BRCA1
0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 9
rs1799966
BRCA1
0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 8
rs62625307
BRCA1
0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06 8
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
rs80357750
BRCA1
0.790 0.200 17 43115759 frameshift variant G/- delins 8
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 8
rs11655505
NBR2 ; BRCA1
0.776 0.160 17 43126360 intron variant G/A snv 0.31 8
rs16941
BRCA1
0.827 0.240 17 43092418 missense variant T/C;G snv 0.35 7
rs45553935
BRCA1
0.851 0.200 17 43057122 missense variant A/C;G;T snv 7
rs80356913
BRCA1
0.851 0.200 17 43106456 missense variant C/A;G;T snv 7