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: rs63749959
rs63749959
MLH1
4 0.925 0.160 3 37008858 frameshift variant AA/-;A;AAA delins 0.700 1.000 5 2003 2013
dbSNP: rs63750005
rs63750005
MLH1
4 0.925 0.160 3 37000992 missense variant C/T snv 0.700 1.000 5 1999 2013
dbSNP: rs63750539
rs63750539
MLH1
3 0.925 0.160 3 37004426 missense variant C/T snv 0.700 1.000 5 2000 2014
dbSNP: rs63750850
rs63750850
MLH1
3 1.000 0.160 3 36996689 missense variant G/A snv 0.700 1.000 5 2002 2011
dbSNP: rs63751094
rs63751094
MLH1
5 0.925 0.160 3 36996624 stop lost A/G;T snv 0.700 1.000 5 2003 2015
dbSNP: rs63751592
rs63751592
MLH1
3 1.000 0.160 3 37028782 splice region variant AAGA/- delins 0.700 1.000 5 1996 2010
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: rs63751715
rs63751715
MLH1
3 1.000 0.160 3 37020463 missense variant G/A;C;T snv 0.700 1.000 5 2002 2010
dbSNP: rs1060500698
rs1060500698
MLH1
1 3 37050639 frameshift variant T/- delins 0.700 1.000 4 2003 2012
dbSNP: rs1434898623
rs1434898623
MLH1
3 1.000 0.080 3 37040295 splice donor variant G/A snv 0.700 1.000 4 2005 2015
dbSNP: rs1553665866
rs1553665866
MLH1
1 3 37050594 stop gained G/T snv 0.700 1.000 4 1999 2010
dbSNP: rs267607777
rs267607777
MLH1
2 1.000 0.160 3 37017603 splice region variant A/G snv 0.700 1.000 4 2007 2015
dbSNP: rs267607787
rs267607787
MLH1
3 1.000 0.160 3 37014477 frameshift variant AATG/- delins 0.700 1.000 4 2003 2007
dbSNP: rs267607791
rs267607791
MLH1
3 1.000 0.160 3 37014545 splice donor variant -/T delins 0.700 1.000 4 1995 2013
dbSNP: rs267607832
rs267607832
MLH1
3 1.000 0.160 3 37028933 splice donor variant G/A;T snv 0.700 1.000 4 1998 2014
dbSNP: rs63749868
rs63749868
MLH1
3 1.000 0.160 3 37047556 frameshift variant ATAG/- delins 0.700 1.000 4 1996 2015
dbSNP: rs63750035
rs63750035
MLH1
2 1.000 0.160 3 37047566 frameshift variant AG/- delins 0.700 1.000 4 1996 2010
dbSNP: rs63750453
rs63750453
MLH1
5 0.882 0.160 3 37001051 missense variant G/A snv 0.700 1.000 4 2001 2013
dbSNP: rs63750603
rs63750603
MLH1
2 1.000 0.160 3 37049017 missense variant G/A;C snv 0.700 1.000 4 2005 2010
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: rs1060500699
rs1060500699
MLH1
2 3 37025702 frameshift variant -/T delins 0.700 1.000 3 2015 2017
dbSNP: rs1553647894
rs1553647894
MLH1
4 0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 0.700 1.000 3 2000 2014
dbSNP: rs1559597322
rs1559597322
MLH1
1 3 37050642 frameshift variant AG/- delins 0.700 1.000 3 2003 2010
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