Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3802842
COLCA2 ; COLCA1
0.695 0.280 11 111300984 intron variant C/A snv 0.71 25
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10 8
rs2075786
TERT
0.790 0.360 5 1266195 intron variant A/G snv 0.55 8
rs267607749
MLH1
1.000 0.160 3 37008801 intron variant A/G snv 3
rs1554308880
AIMP2 ; PMS2
1.000 0.160 7 6008969 intron variant CACCGGAA/- delins 1
rs267608012
MSH2
1.000 0.160 2 47480684 intron variant A/C;G snv 4.0E-06 1
rs587779138
MSH2
1.000 0.160 2 47407923 intron variant T/G snv 1
rs16892766 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 18
rs961253 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 15
rs200640585
PMS2
0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 9
rs587778617
PMS2
0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 8
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 8
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs267608150
PMS2
0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs63750451
PMS2
0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 7
rs63751108
MSH2
0.827 0.240 2 47429881 stop gained C/T snv 7
rs63751422
PMS2
0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 7
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 7
rs143277125
PMS2
0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 6
rs63749849
MSH2
0.851 0.240 2 47429812 stop gained C/T snv 6
rs63749999
FBXO11 ; MSH6
0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 6
rs63750042
MSH2
0.925 0.240 2 47408415 stop gained C/G;T snv 4.0E-06 6
rs63750111
FBXO11 ; MSH6
0.882 0.200 2 47800914 stop gained C/A;G snv 6
rs63750508
MSH2
0.851 0.240 2 47475126 stop gained C/G;T snv 6