Gene: MLH1 ×
Source: INFERRED ×
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: rs63750217
rs63750217
MLH1
6 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 23 1996 2017
dbSNP: rs63751194
rs63751194
MLH1
5 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.700 1.000 18 2002 2017
dbSNP: rs267607767
rs267607767
MLH1
4 0.925 0.160 3 37012009 splice acceptor variant A/C;G snv 0.700 1.000 16 1995 2016
dbSNP: rs63750303
rs63750303
MLH1
2 0.882 0.160 3 37014485 missense variant G/A;T snv 0.700 1.000 15 1997 2014
dbSNP: rs63750781
rs63750781
MLH1
6 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.700 1.000 15 1995 2015
dbSNP: rs63750899
rs63750899
MLH1
4 0.851 0.200 3 37048562 missense variant C/G;T snv 0.700 1.000 15 1996 2015
dbSNP: rs63751221
rs63751221
MLH1
4 0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06 0.700 1.000 15 1999 2018
dbSNP: rs63751657
rs63751657
MLH1
4 0.925 0.160 3 37042331 splice region variant G/A;C;T snv 0.700 1.000 13 1996 2015
dbSNP: rs63749792
rs63749792
MLH1
3 0.925 0.160 3 37048538 missense variant C/A;T snv 0.700 1.000 12 2004 2015
dbSNP: rs63749859
rs63749859
MLH1
2 0.925 0.160 3 37000976 missense variant T/C snv 0.700 1.000 12 2002 2016
dbSNP: rs63750792
rs63750792
MLH1 ; EPM2AIP1
3 0.925 0.160 3 36993630 missense variant C/T snv 0.700 1.000 11 1997 2015
dbSNP: rs63751310
rs63751310
MLH1
3 0.851 0.200 3 37048595 stop gained C/T snv 0.700 1.000 11 1996 2017
dbSNP: rs63751615
rs63751615
MLH1
5 0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 0.700 1.000 11 1996 2017
dbSNP: rs63751642
rs63751642
MLH1
3 1.000 0.160 3 37000956 inframe deletion AGA/- delins 0.700 1.000 11 2002 2014
dbSNP: rs267607803
rs267607803
MLH1
2 1.000 0.080 3 37017602 splice region variant A/G snv 0.700 1.000 10 2001 2016
dbSNP: rs63749900
rs63749900
MLH1
2 0.925 0.160 3 37048596 missense variant G/A;C;T snv 1.6E-05 0.700 1.000 10 1999 2015
dbSNP: rs63749909
rs63749909
MLH1
3 0.925 0.160 3 37028891 missense variant T/A;C snv 7.0E-06 0.700 1.000 10 1996 2015
dbSNP: rs63750193
rs63750193
MLH1
2 0.851 0.160 3 37040276 missense variant T/C snv 0.700 1.000 10 2005 2015
dbSNP: rs63751275
rs63751275
MLH1
6 0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05 0.700 1.000 10 2001 2016
dbSNP: rs63751428
rs63751428
MLH1
3 0.882 0.160 3 36996686 stop gained C/A;T snv 0.700 1.000 10 1994 2010
dbSNP: rs63751711
rs63751711
MLH1
4 0.925 0.160 3 37012099 missense variant G/A;T snv 0.700 1.000 10 2004 2017
dbSNP: rs267607898
rs267607898
MLH1
3 1.000 0.160 3 37050559 frameshift variant CACA/-;CA delins 0.700 1.000 9 1994 2017
dbSNP: rs63750206
rs63750206
MLH1
7 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 1.000 9 1995 2016
dbSNP: rs63750656
rs63750656
MLH1 ; EPM2AIP1
1 0.882 0.160 3 36993632 missense variant G/T snv 0.700 1.000 9 2003 2015
dbSNP: rs63750710
rs63750710
MLH1
3 0.925 0.160 3 37020411 missense variant A/C snv 0.700 1.000 9 1997 2014