Source: CLINVAR ×
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: rs63751194
rs63751194
MLH1
5 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.800 1.000 16 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: rs63750610
rs63750610
MLH1
6 0.851 0.240 3 37048563 missense variant C/G;T snv 0.800 1.000 11 1996 2014
dbSNP: rs63750217
rs63750217
MLH1
6 0.807 0.240 3 37048955 missense variant G/A;C snv 0.800 1.000 10 1996 2013
dbSNP: rs63750206
rs63750206
MLH1
7 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.800 1.000 5 1996 2017
dbSNP: rs63751711
rs63751711
MLH1
4 0.925 0.160 3 37012099 missense variant G/A;T snv 0.800 1.000 4 2001 2017
dbSNP: rs63750693
rs63750693
MLH1
2 0.882 0.160 3 37047652 missense variant T/A;C snv 0.800 1.000 0 1996 2017
dbSNP: rs63750710
rs63750710
MLH1
3 0.925 0.160 3 37020411 missense variant A/C snv 0.800 1.000 0 1996 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 0 2001 2017
dbSNP: rs63750899
rs63750899
MLH1
4 0.851 0.200 3 37048562 missense variant C/G;T snv 0.800 1.000 0 2001 2017
dbSNP: rs63751109
rs63751109
MLH1
2 0.925 0.160 3 36996633 missense variant C/A;T snv 0.800 1.000 0 2001 2017
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: rs63751221
rs63751221
MLH1
4 0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06 0.700 1.000 7 1999 2015
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
5 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