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
rs1057519368
PTEN
0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 4
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
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs11540654
TP53
0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 3
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
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
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs121912652
TP53
0.882 0.200 17 7674191 stop gained C/A;T snv 4
rs121912654
TP53
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 3
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv 15
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 20
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 7
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 11