Gene: MLH1 ×
Source: BEFREE ×
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: rs1060504000
rs1060504000
MLH1
2 0.925 0.160 3 37025666 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1260021106
rs1260021106
MLH1
2 0.925 0.160 3 37025645 missense variant A/G snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs1392665848
rs1392665848
MLH1
2 0.925 0.160 3 37025865 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs267607713
rs267607713
MLH1
3 0.882 0.160 3 36996623 splice acceptor variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs28930073
rs28930073
MLH1
5 0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04 0.010 1.000 1 2006 2006
dbSNP: rs35045067
rs35045067
MLH1
1 0.925 0.160 3 37048557 missense variant A/C;G snv 4.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs376642306
rs376642306
MLH1
3 0.925 0.160 3 37028819 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs41295282
rs41295282
MLH1
1 1.000 0.160 3 37001024 missense variant A/G snv 1.6E-05 7.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs41295284
rs41295284
MLH1
1 0.925 0.160 3 37047607 missense variant T/A snv 1.9E-04 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs63750193
rs63750193
MLH1
3 0.851 0.160 3 37040276 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs63750511
rs63750511
MLH1
1 0.925 0.160 3 37040252 missense variant A/C;T snv 0.010 < 0.001 1 1999 1999
dbSNP: rs63750575
rs63750575
MLH1
4 0.851 0.160 3 37047550 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs63750656
rs63750656
MLH1 ; EPM2AIP1
2 0.882 0.160 3 36993632 missense variant G/T snv 0.010 1.000 1 2014 2014
dbSNP: rs63750791
rs63750791
MLH1
2 0.925 0.160 3 37025864 synonymous variant C/T snv 1.8E-04 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs63751202
rs63751202
MLH1
4 0.851 0.160 3 37048578 missense variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs780406337
rs780406337
MLH1
3 1.000 0.160 3 37048919 missense variant G/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs786201226
rs786201226
MLH1
2 0.925 0.160 3 37014450 synonymous variant A/G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs864622258
rs864622258
MLH1
2 0.925 0.160 3 37050610 missense variant T/G snv 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1418586322
rs1418586322
MLH1
6 0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06 0.020 1.000 2 2004 2007
dbSNP: rs1799977
rs1799977
MLH1
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.020 1.000 2 2006 2012
dbSNP: rs63751713
rs63751713
MLH1
1 0.925 0.160 3 37047531 missense variant C/G;T snv 0.020 0.500 2 1999 2005
dbSNP: rs35502531
rs35502531
MLH1
7 0.827 0.160 3 37047639 missense variant AA/GC mnv 0.030 0.667 3 2006 2012
dbSNP: rs587778914
rs587778914
MLH1
2 0.925 0.160 3 36996645 missense variant A/C snv 0.710 1.000 1 2012 2012
dbSNP: rs587778937
rs587778937
MLH1
4 0.882 0.160 3 37040291 missense variant T/C;G snv 0.710 1.000 1 2013 2013
dbSNP: rs63749818
rs63749818
MLH1
2 0.925 0.160 3 37007002 stop gained C/A;G;T snv 0.710 1.000 1 2012 2012