Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1257401983
BRIP1
1.000 0.120 17 61744445 stop gained G/C snv 3
rs273898674
BRCA1
0.925 0.200 17 43093472 stop gained G/A snv 3
rs397507828
BRCA2
1.000 13 32340440 stop gained G/T snv 3
rs398122630
BRCA1
0.925 0.200 17 43094204 stop gained T/A snv 3
rs771203198
BRCA2
0.925 0.200 13 32394750 stop gained G/A;C snv 4.0E-06 3
rs80359222
BRCA2
0.925 0.200 13 32394913 stop gained A/G;T snv 3
rs876659036
PALB2
1.000 0.080 16 23622997 stop gained C/A;G snv 8.0E-06; 8.0E-06 3
rs886037802
BRCA2
0.925 0.200 13 32339561 stop gained C/G;T snv 3
rs1057518638
BRCA2
1.000 13 32339317 stop gained T/A snv 2
rs1131692035
BRCA2
1.000 13 32332335 stop gained C/G snv 2
rs1555283169
BRCA2
1.000 13 32337677 stop gained A/T snv 2
rs1555599208
BRCA1
1.000 17 43115726 stop gained TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- del 2
rs397507649
BRCA2
1.000 13 32337345 stop gained T/A;G snv 2
rs397507967
BRCA2
1.000 13 32363397 stop gained T/A;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
rs886037787
BRCA1
1.000 17 43092961 stop gained A/T snv 2
rs1131692162
BRCA1
17 43099781 stop gained C/A snv 1
rs1553622530
BARD1
2 214781220 stop gained C/T snv 1
rs1554897879
PTEN
10 87931085 stop gained C/A snv 1
rs1555114766
C11orf65 ; ATM
11 108317486 stop gained G/A snv 1
rs1555461693
PALB2
16 23635903 stop gained C/A snv 1
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45