Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs1042821
MSH6
0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 16
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 15
rs1060503115
PMS2
0.763 0.400 7 5978664 missense variant T/A;G snv 13
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 13
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 10
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv 10
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 9
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
rs63750741
FBXO11 ; MSH6
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 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
rs587778883
MLH1
0.807 0.200 3 37025648 frameshift variant A/- del 7
rs587779340
PMS2
0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 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