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: rs1562605623
rs1562605623
PMS2
1 7 5978697 splice acceptor variant C/G snv 0.700 1.000 2 2011 2014
dbSNP: rs1562616355
rs1562616355
PMS2
1 7 5982992 splice acceptor variant CTGC/GTGT mnv 0.700 1.000 2 2011 2014
dbSNP: rs1562664845
rs1562664845
PMS2
1 7 5995634 splice acceptor variant C/T snv 0.700 1.000 2 2011 2014
dbSNP: rs1562669585
rs1562669585
PMS2
1 7 5997325 splice donor variant C/A snv 0.700 1.000 2 2011 2014
dbSNP: rs587779133
rs587779133
MSH2
2 2 47476421 missense variant T/C snv 0.700 1.000 2 2010 2012
dbSNP: rs63750330
rs63750330
MSH2
2 2 47466710 stop gained T/A;C snv 3.1E-04 0.700 1.000 2 2005 2014
dbSNP: rs759680369
rs759680369
MLH1 ; EPM2AIP1
1 3 36993574 synonymous variant G/A;C;T snv 8.0E-06 0.700 1.000 2 2013 2018
dbSNP: rs764171734
rs764171734
PMS2
1 7 6003793 splice acceptor variant C/A;G snv 4.1E-06 0.700 1.000 2 2011 2014
dbSNP: rs773262801
rs773262801
MSH6 ; FBXO11
1 2 47805636 stop gained -/GAAT delins 4.0E-06 0.700 1.000 2 2008 2014
dbSNP: rs786201047
rs786201047
PMS2
2 7 5995628 stop gained G/C snv 7.0E-06 0.700 1.000 2 2016 2017
dbSNP: rs786201066
rs786201066
MSH2
2 2 47445622 stop gained C/T snv 0.700 1.000 2 2003 2012
dbSNP: rs863224473
rs863224473
MSH6 ; FBXO11
1 2 47799028 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 2008 2014
dbSNP: rs863225402
rs863225402
MSH6 ; FBXO11
2 2 47790926 splice acceptor variant G/C snv 7.0E-06 0.700 1.000 2 2008 2014
dbSNP: rs864622435
rs864622435
MSH6 ; FBXO11
2 2 47799370 stop gained G/T snv 0.700 1.000 2 2008 2014
dbSNP: rs876658817
rs876658817
MSH6 ; FBXO11
2 2 47806532 frameshift variant T/- del 0.700 1.000 2 2010 2011
dbSNP: rs878853785
rs878853785
MLH1
2 3 37048957 frameshift variant AT/- delins 0.700 1.000 2 2014 2015
dbSNP: rs878854059
rs878854059
PMS2
1 7 5995532 splice donor variant A/G snv 4.0E-06 0.700 1.000 2 2011 2014
dbSNP: rs878854060
rs878854060
PMS2
1 7 5992013 frameshift variant GT/- delins 0.700 1.000 2 2011 2014
dbSNP: rs886039424
rs886039424
MLH1
1 3 37048911 stop gained G/A;C snv 0.700 1.000 2 2002 2003
dbSNP: rs1060502876
rs1060502876
MSH6 ; FBXO11
2 2 47800718 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1060502886
rs1060502886
MSH6 ; FBXO11
2 2 47799798 frameshift variant TA/- del 0.700 1.000 1 2015 2015
dbSNP: rs1060502888
rs1060502888
MSH6 ; FBXO11
1 2 47798855 frameshift variant CA/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1060503110
rs1060503110
PMS2
2 7 5978679 stop gained A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1064793234
rs1064793234
PMS2
2 7 5987185 frameshift variant CT/- del 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1114167702
rs1114167702
MSH6 ; FBXO11
2 2 47799554 stop gained CA/- delins 0.700 1.000 1 2013 2013