Gene: MSH2 ×
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: rs28929483
rs28929483
MSH2
4 0.925 0.160 2 47475130 missense variant C/A;G;T snv 0.700 1.000 13 1993 2014
dbSNP: rs63750828
rs63750828
MSH2
4 0.925 0.160 2 47416351 missense variant G/A snv 0.700 1.000 12 2003 2017
dbSNP: rs63749831
rs63749831
MSH2
4 0.925 0.160 2 47475051 inframe deletion AAT/- del 4.0E-06 0.700 1.000 10 1994 2012
dbSNP: rs63750393
rs63750393
MSH2
4 0.925 0.160 2 47471007 frameshift variant GA/-;GAGA delins 0.700 1.000 10 2002 2013
dbSNP: rs63750875
rs63750875
MSH2
15 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.700 1.000 10 2002 2014
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: rs63751618
rs63751618
MSH2
4 0.925 0.160 2 47480866 frameshift variant AG/- delins 0.700 1.000 9 1995 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: 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: 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: rs267607969
rs267607969
MSH2
4 0.925 0.160 2 47466809 splice donor variant G/A;T snv 0.700 1.000 7 2003 2014
dbSNP: rs63749897
rs63749897
MSH2
3 1.000 0.160 2 47412449 frameshift variant AA/-;A;AAA delins 0.700 1.000 7 1995 2014
dbSNP: rs63750624
rs63750624
MSH2
6 0.925 0.160 2 47410211 missense variant G/A snv 0.700 1.000 7 2002 2014
dbSNP: rs63750934
rs63750934
MSH2
5 0.882 0.160 2 47414368 stop gained C/T snv 0.700 1.000 7 1999 2017
dbSNP: rs63751207
rs63751207
MSH2
6 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 7 1994 2016
dbSNP: rs267607940
rs267607940
MSH2
6 0.851 0.240 2 47416430 splice donor variant G/A;T snv 0.700 1.000 6 1999 2017
dbSNP: rs267607950
rs267607950
MSH2
3 1.000 0.160 2 47429942 splice donor variant G/A;C;T snv 0.700 1.000 6 1998 2014
dbSNP: rs267608002
rs267608002
MSH2
3 1.000 0.160 2 47476572 splice donor variant G/A;C snv 0.700 1.000 6 2002 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: rs587779165
rs587779165
MSH2
3 1.000 0.160 2 47410295 inframe deletion CTC/- delins 0.700 1.000 6 2008 2016
dbSNP: rs63749993
rs63749993
MSH2
8 0.882 0.200 2 47476424 missense variant T/G snv 0.700 1.000 6 1999 2012