Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555280053
BRCA2
1.000 13 32316420 splice acceptor variant A/G snv 1
rs1060499566
BRCA2
1.000 13 32316421 splice acceptor variant G/A snv 1
rs80358547
BRCA2
0.851 0.200 13 32316462 start lost T/A;C;G snv 8.0E-06 5
rs80358650
BRCA2
0.925 0.200 13 32316463 start lost G/A;T snv 3
rs80359418
BRCA2
1.000 13 32316463 frameshift variant G/- del 2
rs397507820
BRCA2
1.000 13 32316464 frameshift variant C/- delins 1
rs397507571
BRCA2
1.000 13 32316470 stop gained G/T snv 1
rs1064795072
BRCA2
1.000 13 32316474 frameshift variant C/- delins 1
rs80359298
BRCA2
1.000 13 32316476 frameshift variant AA/- delins 1
rs397507623
BRCA2
0.925 0.200 13 32316478 frameshift variant AGAG/-;AG delins 2
rs80359343
BRCA2
0.925 0.200 13 32316485 frameshift variant C/- delins 3
rs80359393
BRCA2
0.925 0.200 13 32316491 frameshift variant T/-;TT delins 2
rs397507687
BRCA2
1.000 13 32316493 frameshift variant GAAATTTT/- delins 1
rs80359400
BRCA2
0.925 0.200 13 32316497 frameshift variant -/T ins 2
rs80358622
BRCA2
1.000 13 32316497 stop gained G/A;T snv 1
rs886040552
BRCA2
1.000 13 32316507 frameshift variant -/G delins 1
rs483353081
BRCA2
1.000 13 32316508 frameshift variant GAC/ATCGATCGAT;NNNNNNNNNN delins 1
rs80359483
BRCA2
0.882 0.200 13 32316509 frameshift variant AC/- delins 4
rs886040574
BRCA2
0.925 0.200 13 32316509 frameshift variant CGCTGCAACA/- delins 2
rs397507772
BRCA2
1.000 13 32316510 frameshift variant -/A delins 1
rs80359582
BRCA2
1.000 13 32316521 frameshift variant A/- delins 1
rs397507881
BRCA2
1.000 13 32316527 missense variant G/A;T snv 1
rs886040931
BRCA2
1.000 13 32316527 splice donor variant G/- delins 1
rs81002796
BRCA2
0.925 0.200 13 32316528 splice donor variant G/A;C;T snv 4
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 6