Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs273899698
BRCA1
0.851 0.080 17 43092434 stop gained C/A;T snv 5
rs80356880
BRCA1
0.851 0.080 17 43115750 missense variant G/C;T snv 5
rs180177097
PALB2
0.882 0.080 16 23635519 stop gained G/A snv 4
rs515726123
PALB2
0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05 4
rs80357202
BRCA1
0.851 0.080 17 43091477 stop gained C/A;G;T snv 2.4E-05 4
rs879255498
BRCA1
0.851 0.080 17 43094606 stop gained T/A;C snv 4
rs1060502716
CHEK2
1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv 3
rs180177102
PALB2
1.000 0.080 16 23634954 frameshift variant AA/-;A delins 1.8E-04 1.3E-04 3
rs180177111
PALB2
0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06 3
rs180177142
PALB2
0.925 0.080 16 23638106 frameshift variant C/- del 3
rs180177143
PALB2
0.882 0.080 16 23637886 frameshift variant ACAA/- delins 4.0E-05 3.5E-05 3
rs397507218
BRCA1
0.925 0.080 17 43091759 frameshift variant CC/G delins 3
rs397507586
BRCA2
0.925 0.080 13 32332878 frameshift variant GA/- delins 3
rs397507787
BRCA2
0.925 0.080 13 32339912 frameshift variant GT/- delins 3
rs431825390
BRCA1
0.925 0.080 17 43093198 frameshift variant -/CA delins 4.0E-06 3
rs587776417
PALB2
0.925 0.080 16 23629276 splice acceptor variant C/A;G;T snv 4.0E-06 3
rs587776527
PALB2
0.925 0.080 16 23607958 stop gained G/A;C snv 2.0E-05 3
rs587781707
BARD1
1.000 0.080 2 214752472 stop gained G/A;C snv 1.2E-05 3
rs587782443
PALB2
0.925 0.080 16 23636320 frameshift variant T/- delins 4.1E-06 7.0E-06 3
rs587782570
PALB2
0.925 0.080 16 23623033 frameshift variant -/T delins 4.0E-06 3
rs730881473
BRCA1
0.925 0.080 17 43093817 stop gained C/A;G;T snv 3
rs730881620
BRCA2
0.925 0.080 13 32338175 frameshift variant AAGA/- del 7.0E-06 3
rs777741666
ATM ; C11orf65
0.925 0.080 11 108327759 splice donor variant G/A;T snv 3
rs80357720
BRCA1
0.925 0.080 17 43063876 frameshift variant A/- delins 3
rs80357977
BRCA1
0.925 0.080 17 43082509 frameshift variant CA/- delins 3