Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80357498
BRCA1
0.925 0.200 17 43115744 missense variant C/A;T snv 4
rs80357580
BRCA1
0.925 0.200 17 43067649 stop gained GTTA/-;GTTAGTTA delins 7.0E-06 4
rs80357635
BRCA1
0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 4
rs80357701
BRCA1
0.925 0.200 17 43092197 frameshift variant GCTT/- delins 4
rs80357706
BRCA1
0.925 0.200 17 43093125 frameshift variant CA/- delins 4.0E-06 4
rs80357714
BRCA1
0.925 0.200 17 43094150 frameshift variant -/T delins 4
rs80357724
BRCA1
0.925 0.200 17 43094732 frameshift variant AA/-;A;AAA delins 4
rs80357772
BRCA1
0.925 0.200 17 43094549 frameshift variant AT/- del 4
rs80357787
BRCA1
0.925 0.200 17 43091008 frameshift variant TC/- delins 4
rs80357973
BRCA1
0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 4
rs1057518636
BRCA1
1.000 17 43047646 frameshift variant -/A ins 3
rs273898674
BRCA1
0.925 0.200 17 43093472 stop gained G/A snv 3
rs398122630
BRCA1
0.925 0.200 17 43094204 stop gained T/A snv 3
rs41293463
BRCA1
0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 3
rs80357034
BRCA1
0.882 0.200 17 43067610 missense variant G/A;C;T snv 3
rs80357718
BRCA1
0.925 0.200 17 43071198 frameshift variant AAGAG/- delins 3
rs80357760
BRCA1
0.925 0.120 17 43063941 frameshift variant AA/-;AAA delins 3
rs1057517590
BRCA1
1.000 17 43063370 frameshift variant A/- del 2
rs1060505051
BRCA1
1.000 17 43091883 frameshift variant AAGTT/- delins 2
rs1555581104
BRCA1
1.000 17 43071235 frameshift variant CC/- delins 2
rs1555599208
BRCA1
1.000 17 43115726 stop gained TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- del 2
rs397508940
BRCA1
1.000 17 43104958 splice acceptor variant T/C;G snv 2
rs397508983
BRCA1
1.000 17 43092959 stop gained G/A;C snv 4.0E-06 2
rs397509160
BRCA1
1.000 17 43082474 stop gained G/A;T snv 2
rs80357167
BRCA1
1.000 17 43094066 stop gained C/A;T snv 2