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: rs1060502032
rs1060502032
MSH2
1 2 47476522 stop gained G/T snv 0.700 0
dbSNP: rs1060502035
rs1060502035
MSH2
1 2 47445574 frameshift variant -/T;TT delins 0.700 0
dbSNP: rs1060502039
rs1060502039
MSH2
1 2 47475060 frameshift variant T/- delins 0.700 1.000 2 2005 2014
dbSNP: rs1060502875
rs1060502875
MSH6 ; FBXO11
1 2 47791106 frameshift variant TT/-;TTT delins 0.700 0
dbSNP: rs1060502876
rs1060502876
MSH6 ; FBXO11
2 2 47800718 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1060502881
rs1060502881
MSH6 ; FBXO11
2 2 47805636 frameshift variant GAATT/- delins 0.700 0
dbSNP: rs1060502882
rs1060502882
MSH6 ; FBXO11
1 2 47801132 frameshift variant C/- del 0.700 0
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: rs1060502890
rs1060502890
MSH6 ; FBXO11
1 2 47800972 frameshift variant A/- delins 0.700 0
dbSNP: rs1060502891
rs1060502891
MSH6 ; FBXO11
1 2 47803500 frameshift variant A/- del 0.700 0
dbSNP: rs1060502903
rs1060502903
MSH6 ; FBXO11
1 2 47806476 frameshift variant -/AAGA delins 0.700 0
dbSNP: rs1060502918
rs1060502918
MSH6 ; FBXO11
2 2 47799991 frameshift variant G/- delins 0.700 0
dbSNP: rs1060502926
rs1060502926
MSH6 ; FBXO11
1 2 47805028 splice donor variant G/A;C snv 0.700 1.000 3 2008 2015
dbSNP: rs1060502932
rs1060502932
MSH6 ; FBXO11
1 2 47798981 frameshift variant C/- delins 0.700 0
dbSNP: rs1060502937
rs1060502937
MSH6 ; FBXO11
1 2 47806623 stop gained A/T snv 0.700 0
dbSNP: rs1060502940
rs1060502940
MSH6 ; FBXO11
1 2 47799316 frameshift variant AG/- del 0.700 0
dbSNP: rs1060502941
rs1060502941
MSH6 ; FBXO11
1 2 47798877 frameshift variant A/- delins 0.700 0
dbSNP: rs1060502946
rs1060502946
MSH6 ; FBXO11
1 2 47799278 frameshift variant -/AA ins 0.700 0
dbSNP: rs1060503110
rs1060503110
PMS2
2 7 5978679 stop gained A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1060503137
rs1060503137
PMS2
2 7 5986900 frameshift variant TA/- delins 0.700 1.000 2 2012 2013
dbSNP: rs1060503138
rs1060503138
PMS2
1 7 5986874 stop gained G/A snv 0.700 0
dbSNP: rs1060503142
rs1060503142
PMS2
1 7 5987417 stop gained T/A snv 0.700 0
dbSNP: rs1060503148
rs1060503148
PMS2
1 7 6005926 frameshift variant T/- del 0.700 0
dbSNP: rs1064792951
rs1064792951
MSH2
1 2 47482781 frameshift variant TGAAAAAATTATTCAGG/- delins 0.700 0