Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80357107
BRCA1
1.000 17 43045757 missense variant A/C;T snv 2
rs80357839
BRCA1
1.000 17 43045758 frameshift variant C/- delins 1
rs80356914
BRCA1
0.851 0.200 17 43045759 stop gained C/A;G;T snv 4
rs80359873
BRCA1
1.000 17 43045759 frameshift variant TCTCGGGTCACCAC/- delins 1
rs80357307
BRCA1
0.851 0.200 17 43045760 stop gained C/T snv 5
rs1135401888
BRCA1
0.925 0.200 17 43045760 frameshift variant AC/- delins 2
rs886040297
BRCA1
1.000 17 43045760 frameshift variant TCTCGGGTCACCACAGGTGCCTCAC/- delins 1
rs80356959
BRCA1
0.851 0.200 17 43045761 missense variant A/C;G snv 5
rs273902775
BRCA1
1.000 17 43045764 frameshift variant CTCGGGTCACC/C;T delins 2
rs80356942
BRCA1
1.000 17 43045764 stop gained C/A;T snv 8.0E-06 1
rs886040300
BRCA1
1.000 17 43045764 frameshift variant CTCG/- del 1
rs41293465
BRCA1
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 6
rs397509291
BRCA1
0.925 0.200 17 43045767 frameshift variant G/-;GG;GGG delins 2
rs878853296
BRCA1
1.000 17 43045771 frameshift variant CACC/- del 1
rs80357268
BRCA1
0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 6
rs1555574436
BRCA1
1.000 17 43045774 frameshift variant -/AA delins 1
rs886040298
BRCA1
0.925 0.200 17 43045776 frameshift variant -/AA delins 2
rs80357582
BRCA1
0.925 0.200 17 43045778 frameshift variant G/- delins 2
rs80357976
BRCA1
1.000 17 43045780 frameshift variant T/- del 1
rs768401297
BRCA1
0.925 0.200 17 43045784 frameshift variant -/C delins 4.0E-06 2
rs886038046
BRCA1
1.000 17 43045785 stop gained CA/- delins 1
rs397509288
BRCA1
1.000 17 43045787 frameshift variant C/- del 1
rs730881441
BRCA1
0.925 0.200 17 43045789 frameshift variant TCTGCCCA/- delins 3
rs80357757
BRCA1
1.000 17 43045790 frameshift variant -/CT delins 1
rs80357973
BRCA1
0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 4