Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7572644
BABAM2
0.925 0.120 2 28097166 intron variant T/C snv 0.21 2
rs28997576
BARD1
0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 11
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs185229225
BOD1L1
0.851 0.120 4 13607505 intron variant T/C snv 4
rs9609538
BPIFC ; RTCB
0.925 0.120 22 32413845 upstream gene variant T/C snv 0.34 2
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
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
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 11
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 10
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
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
rs80357115
BRCA1
0.790 0.200 17 43092597 stop gained A/C;T snv 8
rs80357750
BRCA1
0.790 0.200 17 43115759 frameshift variant G/- delins 8
rs886039920
BRCA1
0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 7
rs786203319
BRCA1
0.827 0.160 17 43115759 missense variant G/A snv 6
rs80357106
BRCA1
0.827 0.200 17 43092212 stop gained C/A snv 6
rs80357268
BRCA1
0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 6
rs80357327
BRCA1
0.827 0.200 17 43115730 missense variant A/C;G;T snv 6
rs190900046
BRCA1
0.827 0.160 17 43104197 synonymous variant A/C snv 8.0E-06 4.2E-05 5
rs80356897
BRCA1
0.827 0.160 17 43099853 missense variant A/G snv 5