Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800734
EPM2AIP1 ; MLH1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 9
rs1418586322
MLH1
0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06 6
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 6
rs63751012
EPM2AIP1 ; MLH1
0.851 0.200 3 36993656 stop gained G/A;C;T snv 5
rs587779021
MLH1
0.851 0.200 3 37008905 missense variant G/A;C snv 4
rs63750691
MLH1
0.882 0.160 3 37017521 stop gained C/G snv 4
rs63751701
EPM2AIP1 ; MLH1
0.925 0.080 3 36993663 stop gained G/A;T snv 3
rs1434898623
MLH1
1.000 0.080 3 37040295 splice donor variant G/A snv 3
rs63750547
MLH1
0.925 0.160 3 37020312 stop gained T/C;G snv 4.0E-06 3
rs1553651073
MLH1
0.925 0.160 3 37025834 frameshift variant CA/- delins 2
rs587779018
MLH1
0.925 0.160 3 37008855 frameshift variant T/-;TT delins 2
rs779795819
MLH1
0.925 0.080 3 37048526 frameshift variant -/ATTG delins 4.0E-06 2
rs876658198
MLH1
0.925 0.080 3 37028855 missense variant G/A snv 2
rs1114167435
MLH1
1.000 0.080 3 37025932 frameshift variant AG/- delins 1