Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs544654228
RAD51L3-RFFL ; RAD51D
1.000 0.160 17 35106469 missense variant G/A;C;T snv 4.0E-05 1
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 10
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs1562677687
PMS2
1.000 0.160 7 5999131 frameshift variant -/GATA delins 1
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 8
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv 6
rs63750610
MLH1
0.851 0.240 3 37048563 missense variant C/G;T snv 6
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 6
rs267607901
MLH1
0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 5
rs63750453
MLH1
0.882 0.160 3 37001051 missense variant G/A snv 5
rs63751202
MLH1
0.851 0.160 3 37048578 missense variant T/C;G snv 5
rs267607713
MLH1
0.882 0.160 3 36996623 splice acceptor variant G/C snv 4
rs587778998
MLH1
0.925 0.160 3 37000991 missense variant A/G snv 8.0E-06 4
rs63750648
EPM2AIP1 ; MLH1
0.882 0.160 3 36993602 missense variant A/T snv 4
rs63750706
MLH1 ; EPM2AIP1
0.882 0.160 3 36993609 missense variant C/A;T snv 4
rs72481822
EPM2AIP1 ; MLH1
0.925 0.160 3 36993550 start lost G/A;T snv 4
rs267607706
EPM2AIP1 ; MLH1
0.882 0.160 3 36993661 missense variant C/A;G;T snv 4.0E-06 3
rs267607727
MLH1
0.925 0.160 3 37001049 splice donor variant G/A;T snv 3
rs63751022
MLH1
0.925 0.160 3 37050523 stop gained G/A snv 3
rs63751662
MLH1
0.925 0.160 3 37048609 missense variant G/A;T snv 3
rs111052004
MLH1 ; EPM2AIP1
0.925 0.160 3 36993549 start lost T/A;C;G snv 4.0E-06; 4.0E-06 2
rs267607734
MLH1
1.000 0.160 3 37001054 splice donor variant G/A snv 2
rs267607771
MLH1
0.925 0.160 3 37014549 splice region variant G/A;T snv 2
rs63749990
MLH1
0.925 0.160 3 37000985 missense variant T/G snv 2