Disease: Neoplastic Syndromes, Hereditary
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057517648
BRIP1
0.882 0.280 17 61859795 splice donor variant C/- delins 4
rs1057517809
PTEN
0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 4
rs1057517840
TP53
0.925 0.200 17 7674904 frameshift variant CT/- delins 3
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins 5
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv 20
rs1064793881
TP53
0.925 0.120 17 7673784 missense variant C/T snv 3
rs1114167776
MSH6 ; FBXO11
1.000 0.120 2 47791020 frameshift variant -/T delins 2
rs1131691022
TP53
0.827 0.160 17 7670685 frameshift variant GG/A;G delins 2
rs1131691029
TP53
0.827 0.160 17 7673794 missense variant C/G snv 2
rs1131691039
TP53
0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 5
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs121912652
TP53
0.882 0.200 17 7674191 stop gained C/A;T snv 4
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv 15
rs121913344
TP53
0.925 0.200 17 7673704 stop gained G/A;T snv 5
rs146650273
PTEN
0.882 0.160 10 87961042 frameshift variant ACTT/- delins 4
rs148924904
TP53
0.724 0.360 17 7675124 missense variant T/C snv 7.0E-06 17
rs1555525279
TP53
1.000 0.120 17 7673795 missense variant A/C snv 2
rs1555525367
TP53
0.925 0.200 17 7673838 splice acceptor variant C/A;T snv 3
rs1555603638
BRIP1
0.882 0.280 17 61784425 splice acceptor variant C/T snv 4
rs1555609191
BRIP1
0.882 0.280 17 61808545 frameshift variant A/- del 4
rs1555616143
BRIP1
0.882 0.280 17 61849155 frameshift variant TTCTT/- delins 4
rs1555618709
BRIP1
0.925 0.240 17 61861461 frameshift variant -/A delins 3
rs180177092
PALB2
0.851 0.280 16 23635788 frameshift variant AG/- delins 5