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: rs587779227
rs587779227
MSH6 ; FBXO11
4 0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05 0.700 1.000 7 2008 2017
dbSNP: rs63749930
rs63749930
MSH2
2 1.000 0.160 2 47466697 frameshift variant CA/- delins 0.700 1.000 7 1996 2008
dbSNP: rs63750767
rs63750767
MSH6 ; FBXO11
4 0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06 0.700 1.000 7 2003 2016
dbSNP: rs63751127
rs63751127
MSH6 ; FBXO11
5 0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 7 2004 2017
dbSNP: rs63751618
rs63751618
MSH2
4 0.925 0.160 2 47480866 frameshift variant AG/- delins 0.700 1.000 7 1995 2008
dbSNP: rs267608017
rs267608017
MSH2
3 1.000 0.160 2 47480876 splice region variant G/C;T snv 0.700 1.000 6 2000 2019
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 6 1999 2018
dbSNP: rs63749993
rs63749993
MSH2
8 0.882 0.200 2 47476424 missense variant T/G snv 0.730 0.833 6 1999 2012
dbSNP: rs63750508
rs63750508
MSH2
6 0.851 0.240 2 47475126 stop gained C/G;T snv 0.700 1.000 6 1996 2016
dbSNP: rs63750955
rs63750955
MSH6 ; FBXO11
4 0.925 0.160 2 47798633 frameshift variant -/T delins 1.4E-05 0.700 1.000 6 2000 2010
dbSNP: rs63751142
rs63751142
MSH2
3 1.000 0.160 2 47429886 frameshift variant -/T delins 0.700 1.000 6 2001 2005
dbSNP: rs63751444
rs63751444
MSH2
4 0.925 0.160 2 47410287 missense variant T/C;G snv 0.700 1.000 6 2000 2011
dbSNP: rs63751693
rs63751693
MSH2
3 1.000 0.160 2 47445556 stop gained C/T snv 0.700 1.000 6 1995 2005
dbSNP: rs267608058
rs267608058
MSH6 ; FBXO11
6 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 1.000 5 1999 2012
dbSNP: rs267608098
rs267608098
MSH6 ; FBXO11
4 0.925 0.160 2 47804908 splice acceptor variant A/G;T snv 0.700 1.000 5 1999 2015
dbSNP: rs267608122
rs267608122
MSH6 ; FBXO11
4 0.925 0.160 2 47806651 missense variant G/A;C snv 0.700 1.000 5 2004 2014
dbSNP: rs587779246
rs587779246
MSH6 ; FBXO11
2 1.000 0.160 2 47800747 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 2011 2016
dbSNP: rs587779263
rs587779263
MSH6 ; FBXO11
3 1.000 0.160 2 47804909 splice acceptor variant G/T snv 0.700 1.000 5 2010 2016
dbSNP: rs587782111
rs587782111
MSH6 ; FBXO11
3 1.000 0.160 2 47804946 stop gained -/A delins 0.700 1.000 5 2011 2017
dbSNP: rs63750086
rs63750086
MSH2
5 0.882 0.200 2 47429891 frameshift variant AG/- del 0.700 1.000 5 1996 2007
dbSNP: rs267607924
rs267607924
MSH2
2 1.000 0.160 2 47408556 splice donor variant G/A;T snv 4.0E-06 0.700 1.000 4 2008 2016
dbSNP: rs267607957
rs267607957
MSH2
3 1.000 0.160 2 47445658 splice donor variant G/A;C;T snv 0.700 1.000 4 2005 2010
dbSNP: rs267608019
rs267608019
MSH2
3 1.000 0.160 2 47480872 splice donor variant G/A;T snv 0.700 1.000 4 1994 2015
dbSNP: rs398123231
rs398123231
MSH6 ; FBXO11
3 1.000 0.160 2 47804948 stop gained C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 4 2011 2018
dbSNP: rs587779185
rs587779185
MSH2
4 0.925 0.160 2 47414284 frameshift variant TCTG/- delins 0.700 1.000 4 1998 2007