Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587778971
MLH1
1.000 0.160 3 37048949 stop gained G/T snv 2
rs587778975
MLH1
1.000 0.160 3 37049007 stop gained C/G;T snv 2
rs587779008
MLH1 ; EPM2AIP1
1.000 0.160 3 36993584 stop gained G/A;C;T snv 4.0E-06 3
rs587779075
MSH2
0.882 0.200 2 47429830 stop gained C/T snv 5
rs587779097
MSH2
1.000 0.160 2 47466675 stop gained C/T snv 2
rs587779136
MSH2
1.000 0.160 2 47476457 stop gained C/G;T snv 3
rs587779139
MSH2
0.925 0.160 2 47476513 stop gained C/G;T snv 4
rs587779143
MSH2
1.000 0.160 2 47478352 stop gained G/A snv 3
rs587779212
MSH6 ; FBXO11
1.000 0.160 2 47799466 stop gained C/A;T snv 4.0E-06 3
rs587779215
MSH6 ; FBXO11
1.000 0.160 2 47799555 stop gained C/A;G;T snv 3
rs587779232
MSH6 ; FBXO11
1.000 0.160 2 47800110 stop gained T/A snv 3
rs587779267
MSH6 ; FBXO11
1.000 0.160 2 47804958 stop gained G/T snv 7.0E-06 3
rs587779343
PMS2
1.000 0.160 7 5999116 stop gained G/A;C snv 8.0E-06; 4.0E-06 3
rs587779923
FBXO11 ; MSH6
1.000 0.160 2 47800402 stop gained G/A;C;T snv 8.0E-06; 4.0E-06 2
rs587782111
FBXO11 ; MSH6
1.000 0.160 2 47804946 stop gained -/A delins 3
rs587782562
MSH6 ; FBXO11
1.000 0.160 2 47803577 stop gained -/ATGA delins 7.0E-06 3
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 8
rs63749820
MLH1
0.882 0.200 3 37007046 stop gained C/T snv 4
rs63749821
FBXO11 ; MSH6
1.000 0.160 2 47803443 stop gained TA/-;TATA delins 3
rs63749830
MSH2
1.000 0.160 2 47480812 stop gained G/A;T snv 2
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs63749849
MSH2
0.851 0.240 2 47429812 stop gained C/T snv 6
rs63749854
MSH2
1.000 0.160 2 47478336 stop gained G/T snv 3
rs63749867
MLH1
1.000 0.160 3 37048954 stop gained C/A;T snv 1.2E-05 3
rs63749873
MSH6 ; FBXO11
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 5