Source: CURATED

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
rs569550
LSP1
0.925 0.080 11 1865838 intron variant T/G snv 0.35 4
rs7166081 0.925 0.080 15 67199963 downstream gene variant G/A snv 0.76 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
rs10771399 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 3
rs10995190
ZNF365
0.882 0.080 10 62518923 intron variant G/A snv 0.16 3
rs12422552 0.925 0.080 12 14260997 regulatory region variant G/C snv 0.30 3
rs13431652
SPC25
0.925 0.080 2 168896905 intron variant T/C snv 0.24 3
rs1353747
PDE4D
0.882 0.080 5 59041654 intron variant T/G snv 6.9E-02 3
rs17356907
PGAM1P5
0.925 0.080 12 95633983 intron variant A/G snv 0.28 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
rs2284378
RALY
0.851 0.080 20 34000289 intron variant T/C;G snv 3
rs2380205 0.882 0.080 10 5844771 upstream gene variant C/T snv 0.47 3
rs3741378
SIPA1
0.851 0.080 11 65641466 missense variant C/G;T snv 0.15 3
rs3755967
GC
0.925 0.080 4 71743681 intron variant C/A;T snv 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