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: rs863224473
rs863224473
MSH6 ; FBXO11
1 2 47799028 stop gained C/G;T snv 4.0E-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: rs886039424
rs886039424
MLH1
1 3 37048911 stop gained G/A;C snv 0.700 1.000 2 2002 2003
dbSNP: rs1057517541
rs1057517541
MLH1
3 0.925 0.160 3 37025817 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1060502876
rs1060502876
MSH6 ; FBXO11
2 2 47800718 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1060503110
rs1060503110
PMS2
2 7 5978679 stop gained A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167702
rs1114167702
MSH6 ; FBXO11
2 2 47799554 stop gained CA/- delins 0.700 1.000 1 2013 2013
dbSNP: rs141577476
rs141577476
PMS2
3 1.000 0.160 7 6005967 stop gained G/A;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs146816935
rs146816935
MSH6 ; FBXO11
3 1.000 0.160 2 47798875 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1553350167
rs1553350167
MSH2
1 2 47408481 stop gained TA/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1553370397
rs1553370397
MSH2
1 2 47480794 stop gained G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1553414395
rs1553414395
MSH6 ; FBXO11
3 0.925 0.160 2 47801001 stop gained C/A;G;T snv 0.700 1.000 1 2000 2000
dbSNP: rs1559553501
rs1559553501
MLH1
1 3 37025877 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs267607823
rs267607823
MLH1
2 1.000 0.080 3 37025844 stop gained A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs267608059
rs267608059
MSH6 ; FBXO11
5 0.882 0.240 2 47801050 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs267608068
rs267608068
MSH6 ; FBXO11
3 1.000 0.160 2 47800044 stop gained T/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs267608169
rs267608169
PMS2
3 1.000 0.160 7 5987027 stop gained T/A snv 0.700 1.000 1 2008 2008
dbSNP: rs587779232
rs587779232
MSH6 ; FBXO11
3 1.000 0.160 2 47800110 stop gained T/A snv 0.700 1.000 1 2000 2000
dbSNP: rs587779923
rs587779923
MSH6 ; FBXO11
2 1.000 0.160 2 47800402 stop gained G/A;C;T snv 8.0E-06; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs587780724
rs587780724
PMS2
2 1.000 0.160 7 5987389 stop gained G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587782087
rs587782087
MLH1
1 3 37020404 stop gained C/G;T snv 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs587782101
rs587782101
MSH6 ; FBXO11
1 2 47791060 stop gained C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs63750356
rs63750356
MSH6 ; FBXO11
3 1.000 0.160 2 47803683 stop gained C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs63750564
rs63750564
MSH6 ; FBXO11
2 1.000 0.160 2 47799818 stop gained C/A;G snv 0.700 1.000 1 2006 2006
dbSNP: rs63750780
rs63750780
MSH2
2 1.000 0.160 2 47466699 stop gained C/T snv 0.700 1.000 1 2000 2000