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: rs63750232
rs63750232
MSH2
4 0.925 0.160 2 47476435 missense variant G/A;C;T snv 0.700 1.000 6 2003 2017
dbSNP: rs63751007
rs63751007
MSH2
3 1.000 0.160 2 47482805 frameshift variant C/- delins 0.700 1.000 6 1996 2012
dbSNP: rs63751140
rs63751140
MSH2
3 1.000 0.160 2 47471062 missense variant G/A;C;T snv 0.700 1.000 6 2008 2016
dbSNP: rs63751444
rs63751444
MSH2
4 0.925 0.160 2 47410287 missense variant T/C;G snv 0.700 1.000 6 2000 2016
dbSNP: rs12476364
rs12476364
MSH2
3 1.000 0.160 2 47416295 splice acceptor variant G/A;C;T snv 0.700 1.000 5 2000 2016
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 5 2005 2016
dbSNP: rs267607995
rs267607995
MSH2
3 1.000 0.160 2 47476408 missense variant G/A;T snv 0.700 1.000 5 2001 2015
dbSNP: rs587779185
rs587779185
MSH2
4 0.925 0.160 2 47414284 frameshift variant TCTG/- delins 0.700 1.000 5 1995 2016
dbSNP: rs63749848
rs63749848
MSH2
3 1.000 0.160 2 47408416 frameshift variant AG/- delins 0.700 1.000 5 1997 2015
dbSNP: rs63749930
rs63749930
MSH2
2 1.000 0.160 2 47466697 frameshift variant CA/- delins 0.700 1.000 5 1996 2008
dbSNP: rs63750084
rs63750084
MSH2
3 1.000 0.160 2 47482786 frameshift variant A/-;AA delins 0.700 1.000 5 1998 2018
dbSNP: rs63750843
rs63750843
MSH2
4 0.925 0.240 2 47410235 stop gained C/G;T snv 1.6E-05 0.700 1.000 5 2005 2015
dbSNP: rs63750924
rs63750924
MSH2
3 1.000 0.160 2 47410108 frameshift variant TC/- delins 7.0E-06 0.700 1.000 5 1995 2017
dbSNP: rs63751108
rs63751108
MSH2
7 0.827 0.240 2 47429881 stop gained C/T snv 0.700 1.000 5 1993 2014
dbSNP: rs63751142
rs63751142
MSH2
3 1.000 0.160 2 47429886 frameshift variant -/T delins 0.700 1.000 5 2003 2005
dbSNP: rs63751317
rs63751317
MSH2
3 1.000 0.160 2 47475233 stop gained C/A;G;T snv 0.700 1.000 5 1996 2017
dbSNP: rs63751469
rs63751469
MSH2
3 1.000 0.160 2 47482779 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 1996 2008
dbSNP: rs63751640
rs63751640
MSH2
3 1.000 0.160 2 47476367 missense variant G/A;C;T snv 0.700 1.000 5 2000 2017
dbSNP: rs267607943
rs267607943
MSH2
4 0.925 0.160 2 47429740 splice acceptor variant A/C;G;T snv 0.700 1.000 4 2005 2014
dbSNP: rs267607953
rs267607953
MSH2
4 0.925 0.160 2 47429943 splice donor variant T/A;C snv 4.0E-06 0.700 1.000 4 2005 2014
dbSNP: rs587779108
rs587779108
MSH2
3 1.000 0.160 2 47471063 splice donor variant G/A;C;T snv 0.700 1.000 4 2000 2014
dbSNP: rs63749854
rs63749854
MSH2
3 1.000 0.160 2 47478336 stop gained G/T snv 0.700 1.000 4 2004 2017
dbSNP: rs63750042
rs63750042
MSH2
6 0.925 0.240 2 47408415 stop gained C/G;T snv 4.0E-06 0.700 1.000 4 2005 2010
dbSNP: rs63750384
rs63750384
MSH2
3 1.000 0.160 2 47463052 frameshift variant G/- del 0.700 1.000 4 2001 2014
dbSNP: rs63750398
rs63750398
MSH2
5 0.925 0.160 2 47476451 missense variant G/A;T snv 0.700 1.000 4 2006 2016