Disease: Neoplastic Syndromes, Hereditary
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060502376
BRCA2
1.000 0.200 13 32319076 splice acceptor variant G/A;C;T snv 2
rs1060502433
BRCA2
0.925 0.200 13 32357846 stop gained G/A;T snv 3
rs1060502449
BRCA2
0.925 0.200 13 32337461 stop gained G/A;T snv 3
rs1060502454
BRCA2
0.925 0.200 13 32332437 frameshift variant T/- del 3
rs1060502471
BRCA2
0.925 0.200 13 32371074 frameshift variant T/- delins 3
rs1060502478
BRCA2
0.925 0.200 13 32362536 frameshift variant A/- del 3
rs1060502484
BRCA2
0.925 0.200 13 32336587 frameshift variant A/- delins 3
rs1060502601
RAD51C
0.882 0.200 17 58709884 frameshift variant T/- delins 4
rs1060505048
BRCA1
0.925 0.200 17 43045736 frameshift variant T/- del 3
rs1064793054
BRCA1
1.000 0.200 17 43104172 stop gained TGT/AGA mnv 2
rs1064793577
BRCA1
0.925 0.200 17 43076580 frameshift variant A/- del 3
rs1064794018
BRCA2
1.000 0.200 13 32332968 stop gained C/G;T snv 2
rs1064794337
BRCA2
0.925 0.200 13 32338774 frameshift variant C/- del 3
rs1064794647
BRCA2
0.925 0.200 13 32340618 frameshift variant C/- del 3
rs1064794708
BRCA2
0.925 0.200 13 32339029 frameshift variant T/- delins 3
rs1131691016
TP53
0.925 0.240 17 7673699 splice donor variant A/C;T snv 3
rs1131692274
BRCA2
0.925 0.200 13 32333214 stop gained T/G snv 3
rs1135401857
BRCA1
0.925 0.200 17 43092469 frameshift variant C/- del 3
rs1135401868
BRCA1
0.925 0.200 17 43091698 frameshift variant T/- delins 3
rs1135401914
BRCA2
0.925 0.200 13 32340846 frameshift variant A/- del 3
rs1135401919
BRCA2
0.925 0.200 13 32357916 stop gained G/T snv 3
rs1135401927
BRCA2
0.882 0.200 13 32376691 frameshift variant -/A delins 4
rs11571658
BRCA2
0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 6
rs118203998
PALB2
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 11
rs120074205
BRCA2
0.925 0.200 13 32326255 frameshift variant -/G ins 7.0E-06 3