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: rs63750648
rs63750648
MLH1 ; EPM2AIP1
4 0.882 0.160 3 36993602 missense variant A/T snv 0.700 1.000 20 1996 2012
dbSNP: rs63750696
rs63750696
MLH1
1 1.000 0.080 3 37014455 missense variant A/G snv 0.700 1.000 20 1996 2012
dbSNP: rs63750706
rs63750706
MLH1 ; EPM2AIP1
4 0.882 0.160 3 36993609 missense variant C/A;T snv 0.700 1.000 20 1996 2012
dbSNP: rs63750726
rs63750726
MLH1
2 0.925 0.160 3 37048581 missense variant C/T snv 0.700 1.000 20 1996 2012
dbSNP: rs63751661
rs63751661
MLH1
1 1.000 0.080 3 36996708 missense variant G/A;C snv 0.700 1.000 20 1996 2012
dbSNP: rs63751711
rs63751711
MLH1
4 0.925 0.160 3 37012099 missense variant G/A;T snv 0.800 1.000 19 2001 2017
dbSNP: rs63750781
rs63750781
MLH1
6 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.800 1.000 15 2001 2017
dbSNP: rs63750899
rs63750899
MLH1
7 0.851 0.200 3 37048562 missense variant C/G;T snv 0.800 1.000 15 2001 2017
dbSNP: rs63751109
rs63751109
MLH1
2 0.925 0.160 3 36996633 missense variant C/A;T snv 0.800 1.000 15 2001 2017
dbSNP: rs63751275
rs63751275
MLH1
6 0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05 0.800 1.000 12 2001 2015
dbSNP: rs63750855
rs63750855
MLH1
4 0.925 0.160 3 37028858 frameshift variant C/-;CC delins 0.700 1.000 9 2005 2016
dbSNP: rs587779001
rs587779001
MLH1 ; EPM2AIP1
3 1.000 0.080 3 36993521 5 prime UTR variant C/A;T snv 4.0E-06 0.700 1.000 7 2005 2016
dbSNP: rs63750937
rs63750937
MSH2
1 1.000 0.080 2 47478424 frameshift variant CT/- del 0.700 1.000 5 2005 2013
dbSNP: rs63751247
rs63751247
MLH1
5 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 1.000 5 2003 2014
dbSNP: rs267607750
rs267607750
MLH1
3 0.925 0.160 3 37007064 splice donor variant G/C;T snv 0.700 1.000 4 2008 2015
dbSNP: rs587783055
rs587783055
MSH2
1 1.000 0.080 2 47429935 frameshift variant -/A delins 0.700 1.000 4 1998 2014
dbSNP: rs63751615
rs63751615
MLH1
6 0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 0.700 1.000 4 1996 2016
dbSNP: rs267607767
rs267607767
MLH1
4 0.925 0.160 3 37012009 splice acceptor variant A/C;G snv 0.700 1.000 3 1995 2013
dbSNP: rs267607871
rs267607871
MLH1
6 0.851 0.240 3 37048515 splice acceptor variant A/G snv 4.0E-06 0.700 1.000 3 2004 2017
dbSNP: rs267607901
rs267607901
MLH1
5 0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 0.700 1.000 3 1996 2014
dbSNP: rs63750677
rs63750677
MLH1
3 0.925 0.160 3 37020435 frameshift variant C/-;CC delins 0.700 1.000 3 1998 2011
dbSNP: rs63751657
rs63751657
MLH1
4 0.925 0.160 3 37042331 splice region variant G/A;C;T snv 0.700 1.000 3 1996 2008
dbSNP: rs193922370
rs193922370
MLH1
4 0.925 0.160 3 37008813 splice acceptor variant G/A;C;T snv 0.700 1.000 2 2003 2015
dbSNP: rs267607778
rs267607778
MLH1
3 0.925 0.160 3 37012100 splice donor variant G/A;T snv 0.700 1.000 2 2002 2013
dbSNP: rs267607803
rs267607803
MLH1
2 1.000 0.080 3 37017602 splice region variant A/G snv 0.700 1.000 2 2001 2015