Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 10
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 9
rs200640585
PMS2
0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 9
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs63750741
FBXO11 ; MSH6
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 8
rs35502531
MLH1
0.827 0.160 3 37047639 missense variant AA/GC mnv 8
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 8
rs63749993
MSH2
0.882 0.200 2 47476424 missense variant T/G snv 8
rs587778617
PMS2
0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 8
rs2075786
TERT
0.790 0.360 5 1266195 intron variant A/G snv 0.55 8
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10 8
rs587778883
MLH1
0.807 0.200 3 37025648 frameshift variant A/- del 7
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv 7
rs63751194
MLH1
0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 7
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs63751108
MSH2
0.827 0.240 2 47429881 stop gained C/T snv 7
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 7
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs267608150
PMS2
0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7
rs587779338
PMS2
0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 7
rs587779340
PMS2
0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 7
rs63750451
PMS2
0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 7
rs63751422
PMS2
0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 7
rs267608058
FBXO11 ; MSH6
0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 6
rs63749999
FBXO11 ; MSH6
0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 6