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: rs376155665
rs376155665
EPCAM
3 0.925 0.200 2 47378939 intron variant A/C;G;T snv 4.0E-06; 7.6E-05; 4.0E-06; 8.0E-06 0.700 1.000 3 2013 2017
dbSNP: rs267607749
rs267607749
MLH1
3 1.000 0.160 3 37008801 intron variant A/G snv 0.700 1.000 2 2007 2013
dbSNP: rs63750767
rs63750767
MSH6 ; FBXO11
4 0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06 0.700 1.000 13 2005 2016
dbSNP: rs63751466
rs63751466
PMS2
5 0.882 0.200 7 5977629 stop gained G/A;T snv 2.7E-05 0.700 1.000 11 1986 2017
dbSNP: rs267607906
rs267607906
MLH1
4 1.000 0.160 3 37050576 stop gained A/C;G;T snv 0.700 1.000 10 1996 2016
dbSNP: rs267608094
rs267608094
MSH6 ; FBXO11
4 0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06 0.700 1.000 10 2005 2016
dbSNP: rs63750871
rs63750871
PMS2
5 0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 10 1995 2016
dbSNP: rs878853787
rs878853787
MLH1
1 3 37050630 stop gained -/A delins 0.700 1.000 9 1996 2016
dbSNP: rs41542214
rs41542214
MLH1
2 1.000 0.160 3 37048979 stop gained C/A;T snv 4.0E-06 0.700 1.000 8 1994 2016
dbSNP: rs63749849
rs63749849
MSH2
6 0.851 0.240 2 47429812 stop gained C/T snv 0.700 1.000 8 1995 2015
dbSNP: rs63749873
rs63749873
MSH6 ; FBXO11
5 0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 0.700 1.000 8 1999 2014
dbSNP: rs63749932
rs63749932
MSH2
5 0.882 0.160 2 47476399 stop gained C/G;T snv 1.6E-05; 4.0E-06 0.700 1.000 8 1997 2012
dbSNP: rs63750508
rs63750508
MSH2
6 0.851 0.240 2 47475126 stop gained C/G;T snv 0.700 1.000 8 1996 2014
dbSNP: rs63750636
rs63750636
MSH2
6 0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 0.700 1.000 8 2001 2008
dbSNP: rs63751310
rs63751310
MLH1
6 0.851 0.200 3 37048595 stop gained C/T snv 0.700 1.000 8 1996 2015
dbSNP: rs63751615
rs63751615
MLH1
6 0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 0.700 1.000 8 1996 2013
dbSNP: rs63750934
rs63750934
MSH2
5 0.882 0.160 2 47414368 stop gained C/T snv 0.700 1.000 7 1999 2017
dbSNP: rs1553665683
rs1553665683
MLH1
1 3 37050540 stop gained -/TATAAAGCCTTGCGCTCACACATTCTGCCTC delins 0.700 1.000 6 1999 2014
dbSNP: rs587779075
rs587779075
MSH2
5 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 6 1999 2014
dbSNP: rs587779139
rs587779139
MSH2
4 0.925 0.160 2 47476513 stop gained C/G;T snv 0.700 1.000 6 2000 2016
dbSNP: rs63750451
rs63750451
PMS2
7 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.700 1.000 6 2006 2016
dbSNP: rs63750540
rs63750540
MLH1
6 0.851 0.240 3 37025979 stop gained A/T snv 0.700 1.000 6 1997 2009
dbSNP: rs63750978
rs63750978
MLH1
2 1.000 0.160 3 37050524 stop gained G/A snv 0.700 1.000 6 1999 2014
dbSNP: rs200640585
rs200640585
PMS2
9 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.700 1.000 5 2010 2016
dbSNP: rs587779343
rs587779343
PMS2
3 1.000 0.160 7 5999116 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 5 2009 2016