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: rs878853787
rs878853787
MLH1
1 3 37050630 stop gained -/A delins 0.700 1.000 9 1996 2016
dbSNP: rs1553665683
rs1553665683
MLH1
1 3 37050540 stop gained -/TATAAAGCCTTGCGCTCACACATTCTGCCTC delins 0.700 1.000 6 1999 2014
dbSNP: rs1060500698
rs1060500698
MLH1
1 3 37050639 frameshift variant T/- delins 0.700 1.000 4 2003 2012
dbSNP: rs1553665866
rs1553665866
MLH1
1 3 37050594 stop gained G/T snv 0.700 1.000 4 1999 2010
dbSNP: rs1559597322
rs1559597322
MLH1
1 3 37050642 frameshift variant AG/- delins 0.700 1.000 3 2003 2010
dbSNP: rs267607744
rs267607744
MLH1
1 3 37006990 splice acceptor variant G/A;C snv 0.700 1.000 3 2005 2015
dbSNP: rs1553644277
rs1553644277
MLH1
1 3 37012101 splice donor variant T/C snv 0.700 1.000 2 2005 2014
dbSNP: rs1553662800
rs1553662800
MLH1
1 3 37047572 frameshift variant -/CCAGATAGTCCAGA ins 0.700 1.000 2 2005 2014
dbSNP: rs759680369
rs759680369
MLH1 ; EPM2AIP1
1 3 36993574 synonymous variant G/A;C;T snv 8.0E-06 0.700 1.000 2 2013 2018
dbSNP: rs886039424
rs886039424
MLH1
1 3 37048911 stop gained G/A;C snv 0.700 1.000 2 2002 2003
dbSNP: rs1559553501
rs1559553501
MLH1
1 3 37025877 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs267607725
rs267607725
MLH1
1 3 37001039 start lost G/A;C snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs267607785
rs267607785
MLH1
1 3 37014429 splice region variant T/A snv 0.700 1.000 1 2005 2005
dbSNP: rs587782087
rs587782087
MLH1
1 3 37020404 stop gained C/G;T snv 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs63750587
rs63750587
MLH1
1 3 37047544 missense variant C/A snv 0.700 1.000 1 2006 2006
dbSNP: rs730881734
rs730881734
MLH1
1 3 37000953 splice region variant AAGAAGA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1060500687
rs1060500687
MLH1
1 3 37047639 frameshift variant AA/A;AAA;G delins 0.700 0
dbSNP: rs1060500688
rs1060500688
MLH1
1 3 37001014 frameshift variant G/- delins 0.700 0
dbSNP: rs1060500689
rs1060500689
MLH1
1 3 37007000 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1060500692
rs1060500692
MLH1
1 3 37025668 frameshift variant GAGATGG/- delins 0.700 0
dbSNP: rs1060500703
rs1060500703
MLH1
1 3 37025639 frameshift variant T/- delins 0.700 0
dbSNP: rs1060500706
rs1060500706
MLH1
1 3 37050517 frameshift variant G/- delins 0.700 0
dbSNP: rs1060500707
rs1060500707
MLH1
1 3 37025644 stop gained -/A delins 0.700 0
dbSNP: rs1064794331
rs1064794331
MLH1
1 3 37048557 frameshift variant -/TGTGCCCC delins 0.700 0
dbSNP: rs1064795341
rs1064795341
MLH1 ; EPM2AIP1
1 3 36993553 frameshift variant CGTGGCAGGGGTT/- delins 0.700 0