Disease: Neoplastic Syndromes, Hereditary
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs28934574
TP53
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 27
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 25
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 24
rs786201057
TP53
0.677 0.400 17 7675995 missense variant G/A;C;T snv 24
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
rs730882008
TP53
0.683 0.440 17 7673775 missense variant C/A;G;T snv 4.0E-06 22
rs587781525
TP53
0.689 0.480 17 7673778 missense variant T/A;C;G snv 21
rs530941076
TP53
0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 20
rs863224451
TP53
0.701 0.440 17 7673796 missense variant C/A;G;T snv 19
rs483352697
TP53
0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 18
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06 17
rs121912657
TP53
0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 16
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv 15
rs1057519977
TP53
0.763 0.360 17 7675189 missense variant G/C snv 13
rs1057519992
TP53
0.742 0.400 17 7674890 missense variant T/A;C;G snv 13
rs1057519999
TP53
0.763 0.160 17 7674247 missense variant T/C;G snv 12
rs876660807
TP53
0.763 0.160 17 7674248 missense variant T/C snv 12
rs5030820
VHL
0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 6
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins 6
rs5030807
VHL
0.851 0.320 3 10142113 missense variant T/A;C snv 5
rs786202724
MET
0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06 5
rs5030818
VHL
0.882 0.280 3 10149804 stop gained C/G;T snv 4