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: rs63751107
rs63751107
MSH2
1 1.000 0.160 2 47403288 missense variant A/C;G snv 6.7E-05; 1.3E-05 0.700 1.000 17 2001 2017
dbSNP: rs201118107
rs201118107
MSH2
1 1.000 0.160 2 47471051 missense variant A/C;G;T snv 8.0E-06; 1.0E-04; 1.2E-05 0.700 1.000 16 2001 2017
dbSNP: rs63750790
rs63750790
MSH2
3 1.000 0.160 2 47476425 missense variant G/A snv 3.2E-05 7.0E-06 0.700 1.000 16 2001 2017
dbSNP: rs63750797
rs63750797
MSH2
1 1.000 0.160 2 47480795 missense variant A/C;G snv 1.2E-05; 4.0E-06 0.700 1.000 16 2001 2017
dbSNP: rs63751668
rs63751668
MSH2
2 1.000 0.160 2 47475270 missense variant G/A;C;T snv 0.700 1.000 16 2001 2017
dbSNP: rs63750838
rs63750838
MSH2
1 1.000 0.160 2 47466801 missense variant A/C;G snv 0.700 1.000 14 2001 2017
dbSNP: rs63750881
rs63750881
MSH2
2 0.925 0.160 2 47412504 stop gained A/C;G;T snv 0.700 1.000 14 2001 2017
dbSNP: rs63750961
rs63750961
MSH2
3 0.925 0.160 2 47476450 missense variant T/C snv 0.700 1.000 14 2001 2017
dbSNP: rs63751429
rs63751429
MSH2
2 0.925 0.160 2 47408466 missense variant C/T snv 0.700 1.000 14 2001 2017
dbSNP: rs63751477
rs63751477
MSH2
3 0.925 0.160 2 47478306 stop gained G/A;T snv 0.700 1.000 14 2001 2017
dbSNP: rs63751617
rs63751617
MSH2
3 0.925 0.160 2 47429742 missense variant A/T snv 0.700 1.000 14 2001 2017
dbSNP: rs63750828
rs63750828
MSH2
4 0.925 0.160 2 47416351 missense variant G/A snv 0.800 1.000 10 2003 2017
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 7 2002 2013
dbSNP: rs63749831
rs63749831
MSH2
4 0.925 0.160 2 47475051 inframe deletion AAT/- del 4.0E-06 0.700 1.000 6 2002 2014
dbSNP: rs587779185
rs587779185
MSH2
4 0.925 0.160 2 47414284 frameshift variant TCTG/- delins 0.700 1.000 4 1995 2007
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 4 1992 2014
dbSNP: rs63750488
rs63750488
MSH2
4 0.925 0.160 2 47412483 stop gained C/G;T snv 0.700 1.000 4 2003 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 3 2009 2016
dbSNP: rs63750342
rs63750342
MSH6 ; FBXO11
2 0.925 0.160 2 47791092 stop gained G/A snv 0.700 1.000 3 1999 2004
dbSNP: rs63750586
rs63750586
MSH2
3 0.925 0.160 2 47429867 frameshift variant -/A delins 0.700 1.000 3 2007 2015
dbSNP: rs587779148
rs587779148
MSH2
3 0.925 0.160 2 47480760 frameshift variant AG/- delins 0.700 1.000 2 2011 2013
dbSNP: rs587783056
rs587783056
MSH6 ; FBXO11
4 0.925 0.160 2 47799685 frameshift variant TT/- delins 1.4E-05 0.700 1.000 2 2010 2014
dbSNP: rs63750393
rs63750393
MSH2
4 0.925 0.160 2 47471007 frameshift variant GA/-;GAGA delins 0.700 1.000 2 2002 2005
dbSNP: rs63750615
rs63750615
MSH2
3 0.925 0.160 2 47403333 stop gained G/T snv 7.0E-06 0.700 1.000 2 2010 2015
dbSNP: rs63750618
rs63750618
MSH2
3 0.925 0.160 2 47478395 stop gained C/A snv 0.700 1.000 2 2011 2016