Disease: Neoplastic Syndromes, Hereditary
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 31
rs1057517457
MUTYH
0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 6
rs730881833
MUTYH
0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05 6
rs140342925
MUTYH
0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05 5
rs143353451
MUTYH
0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 5
rs372267274
MUTYH
0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 5
rs765123255
MUTYH
0.851 0.120 1 45333436 missense variant G/A snv 4.0E-05 4.2E-05 5
rs121908380
MUTYH
0.882 0.160 1 45333449 stop gained G/A;T snv 1.4E-03; 1.2E-04 4
rs587778536
MUTYH
0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05 4
rs587780078
MUTYH
0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04 4
rs587782228
MUTYH
0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06 4
rs138775799
MUTYH
0.925 0.120 1 45333472 stop gained G/A snv 1.2E-05 3.5E-05 3
rs200495564
MUTYH
0.925 0.120 1 45332446 missense variant G/A snv 5.6E-05 2.8E-05 3
rs376790729
MUTYH
0.925 0.120 1 45331223 stop gained C/A;T snv 4.0E-06; 3.6E-05 3
rs587778541
MUTYH
0.925 0.120 1 45331219 inframe deletion CCT/- delins 9.5E-05 2.8E-05 3
rs587780082
MUTYH
0.925 0.120 1 45331835 stop gained G/A snv 8.2E-05 3.5E-05 3
rs587780751
MUTYH
0.925 0.120 1 45332163 splice region variant T/G snv 7.6E-05 1.3E-04 3
rs730881832
MUTYH
0.925 0.120 1 45333168 missense variant A/T snv 4.0E-06 3
rs746449748
MUTYH
0.925 0.120 1 45333561 splice acceptor variant C/- delins 1.6E-05 3
rs888691362
MUTYH
0.925 0.160 1 45333423 stop gained C/T snv 7.0E-06 3
rs587781295
MUTYH
1.000 0.080 1 45333166 stop gained C/T snv 2