Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs988423880
PMS2
1.000 0.160 7 5999276 splice acceptor variant C/G snv 7.0E-06 3
rs961253 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 15
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs878853815
MSH2
1.000 0.160 2 47408529 stop gained G/T snv 2
rs878853797
MSH2
1.000 0.160 2 47403201 stop gained C/A;T snv 1.4E-05 1
rs878853780
MLH1
0.925 0.160 3 37040296 splice donor variant T/C snv 3
rs876661251
MSH6 ; FBXO11
1.000 0.160 2 47799235 frameshift variant CAGAACTTTGATCT/- delins 1
rs876661222
FBXO11 ; MSH6
0.925 0.160 2 47806309 stop gained -/ATTA delins 4
rs876661159
MLH1
1.000 0.160 3 37004441 frameshift variant C/- del 1
rs876661116
PMS2
0.925 0.160 7 5977598 missense variant C/A;T snv 2
rs876660860
MLH1
1.000 0.160 3 36996676 frameshift variant GA/T delins 2
rs876660546
MSH2
1.000 0.160 2 47480873 splice donor variant T/C;G snv 2
rs876660095
MSH6
1.000 0.160 2 47783236 start lost G/A;C;T snv 4.1E-06 3
rs876659729
PMS2
0.925 0.160 7 5989828 synonymous variant G/A snv 4.0E-06 1.4E-05 2
rs876659189
MSH6 ; FBXO11
1.000 0.160 2 47800787 frameshift variant -/T;TT delins 2
rs876658996
MSH2
1.000 0.160 2 47410374 splice donor variant T/C;G snv 3
rs876658964
PMS2
1.000 0.160 7 5995586 frameshift variant G/- del 2
rs876658881
MSH6 ; FBXO11
1.000 0.160 2 47799501 frameshift variant -/A delins 2
rs876658862
PMS2
0.925 0.160 7 5987567 stop gained G/A snv 4
rs876657701
MSH2
1.000 0.160 2 47445655 stop gained C/T snv 3
rs869312801
PMS2
0.882 0.160 7 5987062 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 4
rs869312770
MSH6 ; FBXO11
0.925 0.160 2 47800829 frameshift variant AG/- delins 3
rs869312769
MSH6 ; FBXO11
0.882 0.160 2 47799334 frameshift variant T/- delins 5
rs869312768
MSH2
0.925 0.160 2 47429865 frameshift variant -/TT delins 2
rs869312767
MLH1 ; EPM2AIP1
1.000 0.160 3 36993572 stop gained CG/TA mnv 2