Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs730881360
ATM
11 108227629 missense variant G/A;C snv 1
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
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
rs555016384
CCR6
6 167136139 missense variant G/A snv 4.0E-06 7.0E-06 1
rs786202676
CHEK2
22 28696956 missense variant T/A;G snv 1
rs201498575
EGFR
7 55165359 missense variant G/A snv 4.0E-06 1
rs1389945622
EPM2AIP1 ; MLH1
3 36993560 missense variant G/A;C snv 1
rs1057519890
ERBB2
0.807 0.200 17 39723966 missense variant T/A snv 1
rs758222990
ERBB2 ; MIR4728
1.000 0.080 17 39725363 missense variant C/G;T snv 1.2E-05 1
rs1057519891
ERBB3
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 1
rs1057519715
ESR1
1.000 0.080 6 152098779 missense variant T/A snv 1
rs1057519827
ESR1
6 152011697 missense variant G/C snv 1
rs1704754
HSD17B7
1 162790761 5 prime UTR variant C/T snv 0.70 0.62 1
rs146312682
LIMD1
3 45595642 missense variant A/C snv 8.6E-04 7.7E-04 1
rs587779003
MLH1
3 37004401 missense variant G/A;C snv 1
rs80357287
NBR2 ; BRCA1
0.882 0.200 17 43124096 start lost T/C snv 1
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 1
rs1057519941
PIK3CA
0.776 0.240 3 179203761 missense variant T/C;G snv 1
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 1
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv 1