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: rs63749939
rs63749939
MLH1
6 0.851 0.160 3 36996702 missense variant G/A snv 0.700 1.000 5 2004 2014
dbSNP: rs267607718
rs267607718
MLH1
3 1.000 0.160 3 36996710 splice donor variant G/A;T snv 0.700 1.000 2 2005 2014
dbSNP: rs267607722
rs267607722
MLH1
2 1.000 0.160 3 36996711 splice donor variant T/C;G snv 0.700 1.000 2 2005 2014
dbSNP: rs267607720
rs267607720
MLH1
6 0.851 0.240 3 37000952 splice region variant C/G;T snv 0.700 1.000 3 2005 2016
dbSNP: rs267607723
rs267607723
MLH1
2 1.000 0.160 3 37000953 splice region variant AGAA/- delins 0.700 1.000 5 2001 2016
dbSNP: rs730881734
rs730881734
MLH1
1 3 37000953 splice region variant AAGAAGA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs267607717
rs267607717
MLH1
2 1.000 0.160 3 37000954 splice acceptor variant G/A snv 0.700 1.000 6 2005 2016
dbSNP: rs63751642
rs63751642
MLH1
3 1.000 0.160 3 37000956 inframe deletion AGA/- delins 0.700 0
dbSNP: rs63750437
rs63750437
MLH1
4 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 12 1997 2014
dbSNP: rs587778997
rs587778997
MLH1
2 1.000 0.160 3 37000979 frameshift variant G/- del 0.700 0
dbSNP: rs587778998
rs587778998
MLH1
4 0.925 0.160 3 37000991 missense variant A/G snv 8.0E-06 0.700 1.000 7 1999 2015
dbSNP: rs63750005
rs63750005
MLH1
4 0.925 0.160 3 37000992 missense variant C/T snv 0.700 1.000 5 1999 2013
dbSNP: rs1060500688
rs1060500688
MLH1
1 3 37001014 frameshift variant G/- delins 0.700 0
dbSNP: rs63751137
rs63751137
MLH1
2 3 37001019 stop gained T/A;G snv 0.700 1.000 1 1976 1976
dbSNP: rs1064795441
rs1064795441
MLH1
2 1.000 0.080 3 37001028 frameshift variant T/- delins 0.700 0
dbSNP: rs267607725
rs267607725
MLH1
1 3 37001039 start lost G/A;C snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs63751221
rs63751221
MLH1
4 0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06 0.700 1.000 4 1999 2004
dbSNP: rs63750453
rs63750453
MLH1
5 0.882 0.160 3 37001051 missense variant G/A snv 0.700 1.000 4 2001 2013
dbSNP: rs267607734
rs267607734
MLH1
2 1.000 0.160 3 37001054 splice donor variant G/A snv 0.700 0
dbSNP: rs63750539
rs63750539
MLH1
3 0.925 0.160 3 37004426 missense variant C/T snv 0.700 1.000 5 2000 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 18 1995 2013
dbSNP: rs63751595
rs63751595
MLH1
3 1.000 0.160 3 37004474 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 5 2001 2015
dbSNP: rs267607745
rs267607745
MLH1
2 1.000 0.160 3 37004475 splice donor variant G/A;T snv 0.700 0
dbSNP: rs267607744
rs267607744
MLH1
1 3 37006990 splice acceptor variant G/A;C snv 0.700 1.000 3 2005 2015
dbSNP: rs63750865
rs63750865
MLH1
2 1.000 0.160 3 37006992 frameshift variant G/- del 0.700 0