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: rs1799977
rs1799977
MLH1
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.030 1.000 3 2007 2017
dbSNP: rs35502531
rs35502531
MLH1
8 0.827 0.160 3 37047639 missense variant AA/GC mnv 0.030 1.000 3 2011 2014
dbSNP: rs56250509
rs56250509
MLH1
10 0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05 0.030 1.000 3 2006 2008
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.030 1.000 3 2007 2014
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: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.020 1.000 2 2014 2017
dbSNP: rs28930073
rs28930073
MLH1
5 0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04 0.020 1.000 2 2004 2005
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: rs63750447
rs63750447
MLH1
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.010 1.000 1 1998 1998
dbSNP: rs63751310
rs63751310
MLH1
6 0.851 0.200 3 37048595 stop gained C/T snv 0.010 1.000 1 2010 2010