Gene: MLH1 ×
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: rs267607894
rs267607894
MLH1
4 0.925 0.160 3 37050628 missense variant T/A;C snv 0.700 1.000 11 1996 2008
dbSNP: rs63750217
rs63750217
MLH1
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 11 1996 2008
dbSNP: rs63750303
rs63750303
MLH1
4 0.882 0.160 3 37014485 missense variant G/A;T snv 0.700 1.000 11 1996 2008
dbSNP: rs63750437
rs63750437
MLH1
4 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 11 1996 2008
dbSNP: rs63750449
rs63750449
MLH1
2 0.925 0.120 3 37047640 missense variant A/C;G;T snv 3.5E-03; 8.4E-05 0.700 1.000 11 1996 2008
dbSNP: rs63750498
rs63750498
MLH1
1 1.000 0.080 3 37028789 missense variant G/A;T snv 2.4E-05 0.700 1.000 11 1996 2008
dbSNP: rs63750718
rs63750718
MLH1
1 1.000 0.080 3 37047589 missense variant A/G snv 0.700 1.000 11 1996 2008
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.080 1.000 8 2007 2014
dbSNP: rs1799977
rs1799977
MLH1
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.050 0.800 5 2007 2017
dbSNP: rs56250509
rs56250509
MLH1
10 0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05 0.050 1.000 5 2002 2008
dbSNP: rs35502531
rs35502531
MLH1
8 0.827 0.160 3 37047639 missense variant AA/GC mnv 0.030 1.000 3 2011 2014
dbSNP: rs63751194
rs63751194
MLH1
7 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2008 2012
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: rs756045117
rs756045117
MLH1
3 0.925 0.080 3 37012090 missense variant C/G;T snv 1.6E-05 0.020 1.000 2 2007 2015
dbSNP: rs1466012753
rs1466012753
MLH1
2 0.925 0.080 3 37014525 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs63750242
rs63750242
MLH1
1 1.000 0.080 3 37048941 missense variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs63750977
rs63750977
MLH1
1 1.000 0.080 3 37007031 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs63751310
rs63751310
MLH1
6 0.851 0.200 3 37048595 stop gained C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs765480781
rs765480781
MLH1
1 1.000 0.080 3 37050648 missense variant T/G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs876659167
rs876659167
MLH1
1 1.000 0.080 3 37026001 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs63749939
rs63749939
MLH1
6 0.851 0.160 3 36996702 missense variant G/A snv 0.700 0
dbSNP: rs63749959
rs63749959
MLH1
4 0.925 0.160 3 37008858 frameshift variant AA/-;A;AAA delins 0.700 0
dbSNP: rs63751267
rs63751267
MLH1
1 1.000 0.080 3 36996663 missense variant G/A snv 0.700 0
dbSNP: rs63751283
rs63751283
MLH1
2 0.925 0.160 3 37014533 missense variant T/A;G snv 0.700 0
dbSNP: rs1224959447
rs1224959447
MLH1
1 1.000 0.080 3 37050622 missense variant C/G snv 7.0E-06 0.010 1.000 1 2018 2018