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: rs193922376
rs193922376
MSH2
4 0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 0.700 1.000 9 1994 2014
dbSNP: rs587779227
rs587779227
MSH6 ; FBXO11
4 0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05 0.700 1.000 9 2008 2017
dbSNP: rs63750250
rs63750250
PMS2
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 1.000 9 2005 2015
dbSNP: rs63750610
rs63750610
MLH1
6 0.851 0.240 3 37048563 missense variant C/G;T snv 0.700 1.000 9 2001 2012
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
6 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 1.000 9 2004 2017
dbSNP: rs63751319
rs63751319
MSH6 ; FBXO11
4 0.925 0.160 2 47806490 frameshift variant GGAGACT/- del 0.700 1.000 9 2005 2014
dbSNP: rs63751618
rs63751618
MSH2
4 0.925 0.160 2 47480866 frameshift variant AG/- delins 0.700 1.000 9 1995 2016
dbSNP: rs878853787
rs878853787
MLH1
1 3 37050630 stop gained -/A delins 0.700 1.000 9 1996 2016
dbSNP: rs267607789
rs267607789
MLH1
3 1.000 0.160 3 37014545 splice donor variant G/A;C;T snv 0.700 1.000 8 1995 2010
dbSNP: rs267607901
rs267607901
MLH1
5 0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 0.700 1.000 8 1996 2016
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
4 0.925 0.160 2 47806606 frameshift variant CAAG/- delins 0.700 1.000 8 2003 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: rs587778888
rs587778888
MLH1 ; EPM2AIP1
2 1.000 0.160 3 36993660 missense variant A/C;G snv 0.700 1.000 8 2002 2016
dbSNP: rs587779067
rs587779067
MSH2
5 0.882 0.200 2 47416399 missense variant C/G;T snv 0.700 1.000 8 2004 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: rs63749909
rs63749909
MLH1
4 0.925 0.160 3 37028891 missense variant T/A;C snv 7.0E-06 0.700 1.000 8 1996 2013
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: rs63749942
rs63749942
MSH6 ; FBXO11
3 1.000 0.160 2 47806279 inframe deletion CGT/- delins 0.700 1.000 8 2007 2016
dbSNP: rs63750086
rs63750086
MSH2
5 0.882 0.200 2 47429891 frameshift variant AG/- del 0.700 1.000 8 1996 2016
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: rs63751247
rs63751247
MLH1
5 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 1.000 8 1999 2013
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