Disease: Neoplastic Syndromes, Hereditary
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs377767347
SMAD4
0.742 0.520 18 51065549 missense variant G/A;C;T snv 14
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 13
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv 13
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv 12
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv 12
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 11
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 9
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 9
rs137854573
APC
0.807 0.120 5 112828889 stop gained C/T snv 8
rs786201856
APC
0.776 0.200 5 112815507 stop gained C/T snv 8
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs145945630
APC
0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05 7
rs397515734
APC
0.827 0.120 5 112792494 stop gained C/T snv 7
rs587781392
APC
0.827 0.120 5 112780895 stop gained C/G;T snv 7
rs62619935
APC
0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 7
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv 7
rs63751108
MSH2
0.827 0.240 2 47429881 stop gained C/T snv 7
rs863225311
APC
0.827 0.120 5 112819347 splice region variant A/C;G snv 7
rs267608161
PMS2
0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 6
rs63750617
FBXO11 ; MSH6
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 6