Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060502901
rs1060502901
MSH6 ; FBXO11
2 1.000 0.160 2 47803435 missense variant T/G snv 0.700 0
dbSNP: rs1085308057
rs1085308057
MSH2
3 0.925 0.160 2 47475244 missense variant A/G snv 0.700 0
dbSNP: rs111052004
rs111052004
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993549 start lost T/A;C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1114167806
rs1114167806
MSH2
7 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 0
dbSNP: rs1114167818
rs1114167818
MSH2
2 1.000 0.160 2 47482777 splice acceptor variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs1131692279
rs1131692279
MSH2
1 1.000 0.160 2 47471011 frameshift variant T/- del 0.700 0
dbSNP: rs1194793421
rs1194793421
MSH2
1 1.000 0.160 2 47414418 splice donor variant G/- delins 0.700 0
dbSNP: rs1253275403
rs1253275403
MLH1
1 1.000 0.160 3 37017542 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1371291280
rs1371291280
MSH2
1 1.000 0.160 2 47466702 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs146421227
rs146421227
MSH2
3 0.882 0.160 2 47482912 missense variant T/A snv 7.0E-06 0.700 1.000 20 1994 2012
dbSNP: rs1553350250
rs1553350250
MSH2
1 1.000 0.160 2 47408543 stop gained T/G snv 0.700 0
dbSNP: rs1553350676
rs1553350676
MSH2
1 1.000 0.160 2 47410143 missense variant A/G snv 0.700 1.000 20 1994 2012
dbSNP: rs1553367635
rs1553367635
MSH2
1 1.000 0.160 2 47470995 frameshift variant CA/- del 0.700 0
dbSNP: rs1553412495
rs1553412495
MSH6 ; FBXO11
1 1.000 0.160 2 47799083 missense variant A/G snv 0.700 0
dbSNP: rs1558459885
rs1558459885
MSH2
2 0.925 0.160 2 47410371 frameshift variant A/- del 0.700 0
dbSNP: rs1558466577
rs1558466577
MSH2
1 1.000 0.160 2 47416368 stop gained C/T snv 0.700 0
dbSNP: rs1558466685
rs1558466685
MSH2
1 1.000 0.160 2 47416399 missense variant CT/GC mnv 0.700 0
dbSNP: rs1558664787
rs1558664787
MSH6 ; FBXO11
1 1.000 0.160 2 47800217 missense variant T/A snv 0.700 0
dbSNP: rs1559543768
rs1559543768
MLH1
1 1.000 0.160 3 37020348 missense variant A/C snv 0.700 0
dbSNP: rs1562677687
rs1562677687
PMS2
1 1.000 0.160 7 5999131 frameshift variant -/GATA delins 0.700 0
dbSNP: rs17217772
rs17217772
MSH2
10 0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 0.700 1.000 16 2001 2017
dbSNP: rs17224367
rs17224367
MSH2
3 0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03 0.700 0
dbSNP: rs193922373
rs193922373
MSH2
1 1.000 0.160 2 47408493 missense variant G/A snv 2.4E-05 0.700 1.000 20 1994 2012
dbSNP: rs193922376
rs193922376
MSH2
4 0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 0.700 1.000 7 2002 2013
dbSNP: rs201118107
rs201118107
MSH2
1 1.000 0.160 2 47471051 missense variant A/C;G;T snv 8.0E-06; 1.0E-04; 1.2E-05 0.700 1.000 16 2001 2017