Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607749
MLH1
1.000 0.160 3 37008801 intron variant A/G snv 3
rs1057517541
MLH1
0.925 0.160 3 37025817 stop gained C/T snv 3
rs1230083633
MSH2
1.000 0.160 2 47482800 stop gained G/A;C;T snv 8.0E-06 2
rs141577476
PMS2
1.000 0.160 7 6005967 stop gained G/A;T snv 1.2E-05 3
rs143277125
PMS2
0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 6
rs146816935
FBXO11 ; MSH6
1.000 0.160 2 47798875 stop gained C/G;T snv 4.0E-06; 8.0E-06 3
rs1553412966
MSH6 ; FBXO11
1.000 0.160 2 47799553 stop gained -/A delins 2
rs1553414395
FBXO11 ; MSH6
0.925 0.160 2 47801001 stop gained C/A;G;T snv 3
rs1800937
MSH6 ; FBXO11
1.000 0.160 2 47798625 stop gained C/A;G;T snv 7.1E-02 2
rs200492211
MSH6 ; FBXO11
1.000 0.160 2 47801125 stop gained C/G;T snv 4.0E-06 3
rs200640585
PMS2
0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 9
rs201451115
PMS2
0.925 0.160 7 5986826 stop gained T/A snv 4.0E-06 4
rs267607906
MLH1
1.000 0.160 3 37050576 stop gained A/C;G;T snv 4
rs267607954
MSH2
1.000 0.160 2 47445625 stop gained G/A;T snv 4.0E-06 3
rs267608059
MSH6 ; FBXO11
0.882 0.240 2 47801050 stop gained G/T snv 5
rs267608068
MSH6 ; FBXO11
1.000 0.160 2 47800044 stop gained T/A;G snv 3
rs267608094
MSH6 ; FBXO11
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06 4
rs267608150
PMS2
0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7
rs267608169
PMS2
1.000 0.160 7 5987027 stop gained T/A snv 3
rs398123231
FBXO11 ; MSH6
1.000 0.160 2 47804948 stop gained C/A;G;T snv 4.0E-06; 1.6E-05 3
rs41542214
MLH1
1.000 0.160 3 37048979 stop gained C/A;T snv 4.0E-06 2
rs573125799
PMS2
1.000 0.160 7 5997364 stop gained G/A;T snv 3.6E-05 3
rs587778617
PMS2
0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 8
rs587778894
MLH1
1.000 0.160 3 37025769 stop gained C/A;T snv 2
rs587778933
MLH1
1.000 0.160 3 37040240 stop gained G/A snv 3