Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4444235 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 23
rs1553356484
MSH2
1.000 0.160 2 47429605 coding sequence variant -/GAGCCACTGCGCCCAGCAGATTCAAGCTTTTTAAATGGAATTTTGAGCTGATTTAGTTGAGACTTACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGGTAACAAGTGATTTTGTTTTTTTGTTTTCCTTCAACTCATACAATATATACTTGGCAATGTGCTGTCCTCATAAAGTTGGTGGTGGTGACTCACTCTTAGGACACATTCAGATTTCTTT delins 1
rs63750523
FBXO11 ; MSH6
1.000 0.160 2 47806256 inframe insertion -/AACTTG delins 2
rs587779157
MSH2
0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 6
rs63751247
MLH1
0.882 0.200 3 37047632 inframe deletion AAG/- delins 5
rs63749831
MSH2
0.925 0.160 2 47475051 inframe deletion AAT/- del 4.0E-06 4
rs587779165
MSH2
1.000 0.160 2 47410295 inframe deletion CTC/- delins 3
rs63749942
FBXO11 ; MSH6
1.000 0.160 2 47806279 inframe deletion CGT/- delins 3
rs63751642
MLH1
1.000 0.160 3 37000956 inframe deletion AGA/- delins 3
rs1553664506
MLH1
1.000 0.160 3 37048961 inframe deletion TCT/- delins 2
rs587778930
MLH1
1.000 0.160 3 37040214 inframe deletion TTC/- delins 2
rs63750486
MLH1
1.000 0.160 3 37047619 inframe deletion TTG/- delins 2
rs1064793600
FBXO11 ; MSH6
1.000 0.160 2 47799597 inframe deletion CTT/- delins 7.0E-06 1
rs1553369194
MSH2
1.000 0.160 2 47476540 inframe deletion GAAATGTTGGAAACTGCT/- delins 1
rs587779039
MLH1
1.000 0.160 3 37014536 inframe deletion TCA/- delins 1
rs63750088
MSH2
1.000 0.160 2 47410285 inframe deletion TGAGGCTCT/- delins 1
rs63751094
MLH1
0.925 0.160 3 36996624 stop lost A/G;T snv 5
rs1554292684
PMS2
1.000 0.160 7 5973399 stop lost TCAGTTCTGAGAAATGACACCCAGGTTGGCGATGTGTCTCATGGTTGGCCTTCCATGGGGACAGTTCCAGGGGTGGTCCATCTCCCCCATGTGGGTGATCAGTTTCTTCATCTCGCTTGTGTTAAGAGCAGTCCCAATCATCAC/- del 1
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 10
rs587780059
AIMP2 ; PMS2
0.882 0.200 7 6009018 start lost A/C;G;T snv 4.0E-06; 4.0E-06; 8.0E-06 5
rs72481822
EPM2AIP1 ; MLH1
0.925 0.160 3 36993550 start lost G/A;T snv 4
rs876660095
MSH6
1.000 0.160 2 47783236 start lost G/A;C;T snv 4.1E-06 3
rs111052004
MLH1 ; EPM2AIP1
0.925 0.160 3 36993549 start lost T/A;C;G snv 4.0E-06; 4.0E-06 2
rs267607720
MLH1
0.851 0.240 3 37000952 splice region variant C/G;T snv 6
rs267607768
MLH1
0.851 0.240 3 37011867 splice region variant G/A;C snv 6