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: 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: rs1553361141
rs1553361141
MSH2
1 1.000 0.160 2 47445546 splice donor variant AAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG/- delins 0.700 1.000 8 2003 2013
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: rs63749930
rs63749930
MSH2
2 1.000 0.160 2 47466697 frameshift variant CA/- delins 0.700 1.000 7 1996 2008
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: rs267608017
rs267608017
MSH2
3 1.000 0.160 2 47480876 splice region variant G/C;T snv 0.700 1.000 6 2000 2019
dbSNP: rs63751142
rs63751142
MSH2
3 1.000 0.160 2 47429886 frameshift variant -/T delins 0.700 1.000 6 2001 2005
dbSNP: rs63751693
rs63751693
MSH2
3 1.000 0.160 2 47445556 stop gained C/T snv 0.700 1.000 6 1995 2005
dbSNP: rs587779246
rs587779246
MSH6 ; FBXO11
2 1.000 0.160 2 47800747 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 2011 2016
dbSNP: rs587779263
rs587779263
MSH6 ; FBXO11
3 1.000 0.160 2 47804909 splice acceptor variant G/T snv 0.700 1.000 5 2010 2016
dbSNP: rs587782111
rs587782111
MSH6 ; FBXO11
3 1.000 0.160 2 47804946 stop gained -/A delins 0.700 1.000 5 2011 2017
dbSNP: rs63750603
rs63750603
MLH1
2 1.000 0.160 3 37049017 missense variant G/A;C snv 0.700 1.000 5 2005 2012
dbSNP: rs1553642657
rs1553642657
MLH1
1 1.000 0.160 3 37008811 splice donor variant GGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGT/- delins 0.700 1.000 4 2003 2010
dbSNP: rs267607786
rs267607786
MLH1
3 1.000 0.160 3 37014548 splice region variant A/C;G;T snv 0.700 1.000 4 1997 2011
dbSNP: rs267607837
rs267607837
MLH1
2 1.000 0.160 3 37040185 splice acceptor variant G/A;C;T snv 0.700 1.000 4 1996 2001
dbSNP: rs267607875
rs267607875
MLH1
1 1.000 0.160 3 37048539 missense variant C/T snv 0.700 1.000 4 2005 2011
dbSNP: rs267607924
rs267607924
MSH2
2 1.000 0.160 2 47408556 splice donor variant G/A;T snv 4.0E-06 0.700 1.000 4 2008 2016
dbSNP: rs267607957
rs267607957
MSH2
3 1.000 0.160 2 47445658 splice donor variant G/A;C;T snv 0.700 1.000 4 2005 2010
dbSNP: rs267608019
rs267608019
MSH2
3 1.000 0.160 2 47480872 splice donor variant G/A;T snv 0.700 1.000 4 1994 2015
dbSNP: rs398123231
rs398123231
MSH6 ; FBXO11
3 1.000 0.160 2 47804948 stop gained C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 4 2011 2018
dbSNP: rs587779343
rs587779343
PMS2
3 1.000 0.160 7 5999116 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 4 2009 2016
dbSNP: rs587782562
rs587782562
MSH6 ; FBXO11
3 1.000 0.160 2 47803577 stop gained -/ATGA delins 7.0E-06 0.700 1.000 4 2009 2015
dbSNP: rs63750439
rs63750439
MSH6 ; FBXO11
2 1.000 0.160 2 47799172 frameshift variant AT/-;ATAT delins 0.700 1.000 4 2004 2016
dbSNP: rs63750611
rs63750611
MSH2
1 1.000 0.160 2 47429854 stop gained C/G;T snv 4.4E-05 0.700 1.000 4 1996 2008
dbSNP: rs63750833
rs63750833
MSH6 ; FBXO11
3 1.000 0.160 2 47801136 frameshift variant AG/- delins 7.0E-06 0.700 1.000 4 2005 2017