Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587780059
AIMP2 ; PMS2
0.882 0.200 7 6009018 start lost A/C;G;T snv 4.0E-06; 4.0E-06; 8.0E-06 5
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121912965
EPM2AIP1 ; MLH1
0.882 0.200 3 36993651 missense variant TG/AC mnv 3
rs63749999
FBXO11 ; MSH6
0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 6
rs63751017
FBXO11 ; MSH6
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 6
rs876660943
FBXO11 ; MSH6
0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 5
rs587776705
FBXO11 ; MSH6
1.000 0.160 2 47803633 inframe deletion GTG/- del 1
rs756580931
LOC105373796 ; PMS1
1.000 0.160 2 189863996 missense variant A/G snv 1
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv 10
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 9
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 8
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv 7
rs267607720
MLH1
0.851 0.240 3 37000952 splice region variant C/G;T snv 6
rs267607768
MLH1
0.851 0.240 3 37011867 splice region variant G/A;C snv 6
rs267607871
MLH1
0.851 0.240 3 37048515 splice acceptor variant A/G snv 4.0E-06 6
rs63750540
MLH1
0.851 0.240 3 37025979 stop gained A/T snv 6
rs63750610
MLH1
0.851 0.240 3 37048563 missense variant C/G;T snv 6
rs63751275
MLH1
0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05 6
rs63751615
MLH1
0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 6
rs63751247
MLH1
0.882 0.200 3 37047632 inframe deletion AAG/- delins 5
rs1553647894
MLH1
0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 4
rs267607735
MLH1
0.851 0.240 3 37001058 splice region variant G/A snv 4