Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886040738
BRCA2
0.851 13 32363188 frameshift variant G/- delins 7
rs867114783
TP53
17 7675109 missense variant T/C snv 6
rs397507828
BRCA2
1.000 13 32340440 stop gained G/T snv 4
rs397508838
BRCA1
0.925 17 43094416 stop gained C/T snv 7.0E-06 4
rs1057518636
BRCA1
1.000 17 43047646 frameshift variant -/A ins 3
rs1057518637
BRCA2
1.000 13 32336621 stop gained C/G;T snv 3
rs1131691041
TP53
17 7676271 frameshift variant -/A delins 3
rs121913381
CDKN2A
9 21971037 missense variant C/A;T snv 3
rs200397144
SDHA
1.000 5 251427 missense variant C/G;T snv 2.4E-05; 4.0E-06 3
rs267606999
RAD51C
0.925 17 58696702 missense variant G/C snv 4.0E-06 1.4E-05 3
rs483353077
BRCA2
1.000 13 32370470 frameshift variant TTT/AAAA;NNNN delins 3
rs587781287
LOC105371843 ; RAD51C
0.925 17 58724090 stop gained C/A;T snv 8.0E-06 7.0E-06 3
rs587781410
LOC105371843 ; RAD51C
0.925 17 58732548 inframe deletion GTA/- delins 3
rs587781995
LOC105371843 ; RAD51C
0.925 17 58724038 splice acceptor variant AG/- del 1.2E-05 7.0E-06 3
rs587782036
RAD51C
0.925 17 58696692 splice acceptor variant G/A;C snv 3
rs587782702
RAD51C
0.925 17 58720817 splice region variant G/T snv 1.6E-05 1.4E-05 3
rs587782710
PMS2
1.000 7 5997376 frameshift variant GGAGTCAC/- delins 3
rs730881931
RAD51C
0.925 17 58695191 splice donor variant T/C snv 4.1E-06 7.0E-06 3
rs750600586
TP53
17 7675199 missense variant G/A;T snv 3
rs754367349
RAD51C
0.925 17 58709927 frameshift variant T/- del 3
rs760235677
RAD51C
0.925 17 58709991 splice donor variant G/A;T snv 1.2E-05 3
rs80359706
BRCA2
1.000 13 32363522 frameshift variant -/T delins 3
rs876659253
BRCA1
1.000 17 43094296 frameshift variant ACAT/TG delins 3
rs876659874
LOC105371843 ; RAD51C
0.925 17 58724049 stop gained G/A snv 7.0E-06 3
rs878853824
MSH2
2 47412558 stop gained C/T snv 3