Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507710
BRCA2
1.000 13 32338504 frameshift variant T/- delins 2
rs397507967
BRCA2
1.000 13 32363397 stop gained T/A;G snv 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
rs397516979
ERBB2 ; MIR4728
1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins 2
rs80357167
BRCA1
1.000 17 43094066 stop gained C/A;T snv 2
rs80358146
BRCA1
1.000 17 43104957 splice acceptor variant C/A;T snv 2
rs80359603
BRCA2
1.000 13 32340907 frameshift variant G/- delins 2
rs886037784
BRCA1
1.000 17 43099803 frameshift variant A/- del 2
rs886037785
BRCA1
1.000 17 43091708 frameshift variant TACCT/- delins 2
rs886037786
BRCA1
1.000 17 43094231 frameshift variant -/G delins 2
rs886037787
BRCA1
1.000 17 43092961 stop gained A/T snv 2
rs886037790
BRCA1
1.000 17 43071202 frameshift variant A/- delins 2
rs886037798
BRCA2
1.000 13 32340886 frameshift variant -/C delins 2
rs886037799
BRCA2
1.000 13 32338503 frameshift variant AT/- del 2
rs886037800
BRCA2
1.000 13 32338395 frameshift variant TT/-;TTT delins 2
rs886037801
BRCA2
1.000 0.200 13 32337354 frameshift variant T/-;TT delins 2
rs886037803
BRCA2
1.000 13 32338188 frameshift variant TA/- delins 2
rs886037804
BRCA2
1.000 13 32379805 frameshift variant A/- delins 2
rs886037805
BRCA2
1.000 13 32398266 frameshift variant G/- del 2
rs886040109
BRCA1
1.000 17 43092265 frameshift variant A/- delins 2
rs1057519715
ESR1
1.000 0.080 6 152098779 missense variant T/A snv 1
rs121913288
PIK3CA
1.000 0.200 3 179234219 missense variant A/G snv 1
rs121913292
PTEN
1.000 0.080 10 87933148 frameshift variant G/- del 1