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: 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: 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: 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: 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
dbSNP: rs267607760
rs267607760
MLH1
3 0.925 0.160 3 37008908 splice region variant A/G snv 0.700 1.000 6 1997 2011
dbSNP: rs267607767
rs267607767
MLH1
4 0.925 0.160 3 37012009 splice acceptor variant A/C;G snv 0.700 1.000 6 1995 2016
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: rs587778998
rs587778998
MLH1
4 0.925 0.160 3 37000991 missense variant A/G snv 8.0E-06 0.700 1.000 6 2004 2015
dbSNP: rs63749873
rs63749873
MSH6 ; FBXO11
5 0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 0.700 1.000 6 1999 2018
dbSNP: rs63750955
rs63750955
MSH6 ; FBXO11
4 0.925 0.160 2 47798633 frameshift variant -/T delins 1.4E-05 0.700 1.000 6 2000 2010
dbSNP: rs63751142
rs63751142
MSH2
3 1.000 0.160 2 47429886 frameshift variant -/T delins 0.700 1.000 6 2001 2005
dbSNP: rs63751444
rs63751444
MSH2
4 0.925 0.160 2 47410287 missense variant T/C;G snv 0.700 1.000 6 2000 2011
dbSNP: rs63751693
rs63751693
MSH2
3 1.000 0.160 2 47445556 stop gained C/T snv 0.700 1.000 6 1995 2005
dbSNP: rs267608098
rs267608098
MSH6 ; FBXO11
4 0.925 0.160 2 47804908 splice acceptor variant A/G;T snv 0.700 1.000 5 1999 2015
dbSNP: rs267608122
rs267608122
MSH6 ; FBXO11
4 0.925 0.160 2 47806651 missense variant G/A;C snv 0.700 1.000 5 2004 2014
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: rs587782704
rs587782704
PMS2
4 0.925 0.160 7 5982881 frameshift variant T/- delins 0.700 1.000 5 2013 2016
dbSNP: rs63750005
rs63750005
MLH1
4 0.925 0.160 3 37000992 missense variant C/T snv 0.700 1.000 5 1999 2014