Disease: Neoplastic Syndromes, Hereditary
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 44
rs1237049560
BRCA2
0.925 0.200 13 32337791 stop gained G/T snv 4.0E-06 3
rs1327086366
RAD51C
0.925 0.200 17 58696858 splice donor variant G/- delins 4.0E-06 3
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 16
rs1405341259
BRCA2
1.000 0.200 13 32394759 frameshift variant -/A delins 4.0E-06 1.4E-05 2
rs1434072252
BRCA2
1.000 0.200 13 32355290 splice donor variant T/A;C snv 4.0E-06 2
rs149330893
BRCA2
0.925 0.200 13 32340783 stop gained C/A;G;T snv 4.3E-06 3
rs1555281604
BRCA2
1.000 0.200 13 32332309 frameshift variant T/- del 2
rs1555281630
BRCA2
0.925 0.200 13 32332393 frameshift variant ATAG/- delins 3
rs1555282011
BRCA2
1.000 0.200 13 32333151 frameshift variant TTGAT/- del 2
rs1555282969
BRCA2
0.925 0.200 13 32337312 frameshift variant -/G ins 3
rs1555283051
BRCA2
1.000 0.200 13 32337453 frameshift variant AT/- delins 2
rs1555283079
BRCA2
1.000 0.200 13 32337526 frameshift variant -/A delins 2
rs1555283086
BRCA2
1.000 0.200 13 32337542 frameshift variant -/G ins 2
rs1555283209
BRCA2
1.000 0.200 13 32337740 stop gained C/T snv 2
rs1555283371
BRCA2
0.925 0.200 13 32338065 frameshift variant C/- del 3
rs1555283442
BRCA2
0.925 0.200 13 32338220 stop gained -/AAT delins 3
rs1555283588
BRCA2
0.925 0.200 13 32338490 frameshift variant C/- del 3
rs1555283664
BRCA2
0.925 0.200 13 32338614 frameshift variant -/T delins 3
rs1555283971
BRCA2
1.000 0.200 13 32339237 frameshift variant AA/- delins 2
rs1555284044
BRCA2
1.000 0.200 13 32339402 stop gained C/T snv 2
rs1555284423
BRCA2
0.925 0.200 13 32340201 frameshift variant A/- del 3
rs1555284465
BRCA2
0.925 0.200 13 32340280 frameshift variant T/- del 3
rs1555284710
BRCA2
0.925 0.200 13 32340826 frameshift variant -/T delins 3
rs1555284730
BRCA2
1.000 0.200 13 32340866 frameshift variant GT/- delins 2