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: rs63751422
rs63751422
PMS2
7 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 10 2005 2016
dbSNP: rs267607789
rs267607789
MLH1
3 1.000 0.160 3 37014545 splice donor variant G/A;C;T snv 0.700 1.000 9 1996 2016
dbSNP: rs63750636
rs63750636
MSH2
6 0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 0.700 1.000 9 1998 2014
dbSNP: rs1553361141
rs1553361141
MSH2
1 1.000 0.160 2 47445546 splice donor variant AAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG/- delins 0.700 1.000 8 2003 2013
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 8 1996 2012
dbSNP: rs267607996
rs267607996
MSH2
2 0.925 0.160 2 47476382 missense variant G/A;C snv 0.700 1.000 8 1999 2018
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
4 0.925 0.160 2 47806606 frameshift variant CAAG/- delins 0.700 1.000 8 2003 2015
dbSNP: rs63749906
rs63749906
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993651 missense variant T/G snv 0.700 1.000 8 1995 2007
dbSNP: rs63750070
rs63750070
MSH2
3 0.882 0.160 2 47410245 missense variant T/C;G snv 0.700 1.000 8 2005 2011
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
5 0.851 0.200 2 47800966 stop gained G/A;C;T snv 0.700 1.000 8 2001 2015
dbSNP: rs63750521
rs63750521
MSH2
1 1.000 0.160 2 47445644 stop gained T/C;G snv 0.700 1.000 8 1994 2005
dbSNP: rs63751221
rs63751221
MLH1
4 0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06 0.700 1.000 8 2000 2009
dbSNP: rs63751327
rs63751327
MSH6 ; FBXO11
4 0.925 0.160 2 47804984 frameshift variant -/A;AA delins 0.700 1.000 8 1999 2010
dbSNP: rs267607845
rs267607845
MLH1
5 0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 0.700 1.000 7 2003 2016
dbSNP: rs267608172
rs267608172
PMS2
4 0.925 0.160 7 5982823 splice donor variant C/A;G;T snv 4.1E-06; 1.6E-05 0.700 1.000 7 2008 2016
dbSNP: rs587779157
rs587779157
MSH2
6 0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 0.700 1.000 7 2000 2019
dbSNP: rs587779227
rs587779227
MSH6 ; FBXO11
4 0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05 0.700 1.000 7 2008 2017
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
10 0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 0.700 1.000 7 2008 2016
dbSNP: rs63749930
rs63749930
MSH2
2 1.000 0.160 2 47466697 frameshift variant CA/- delins 0.700 1.000 7 1996 2008
dbSNP: rs63750539
rs63750539
MLH1
3 0.925 0.160 3 37004426 missense variant C/T snv 0.700 1.000 7 2000 2014
dbSNP: rs63750767
rs63750767
MSH6 ; FBXO11
4 0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06 0.700 1.000 7 2003 2016
dbSNP: rs63751127
rs63751127
MSH6 ; FBXO11
5 0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 7 2004 2017
dbSNP: rs63751428
rs63751428
MLH1
5 0.882 0.160 3 36996686 stop gained C/A;T snv 0.700 1.000 7 1995 2010
dbSNP: rs63751598
rs63751598
MLH1
2 1.000 0.160 3 37017598 missense variant A/C;G snv 0.700 1.000 7 1997 2008
dbSNP: rs63751618
rs63751618
MSH2
4 0.925 0.160 2 47480866 frameshift variant AG/- delins 0.700 1.000 7 1995 2008