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: rs786201042
rs786201042
MSH6
7 0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 0.700 1.000 1 2015 2015
dbSNP: rs1553408127
rs1553408127
MSH6
1 1.000 0.160 2 47783288 frameshift variant G/- del 0.700 0
dbSNP: rs63750664
rs63750664
MSH6
3 0.882 0.200 2 47783292 missense variant C/A;T snv 4.1E-06; 9.4E-05 0.700 1.000 9 1997 2012
dbSNP: rs267608026
rs267608026
MSH6
1 1.000 0.160 2 47783306 missense variant G/T snv 1.4E-04 2.2E-04 0.700 1.000 9 1997 2012
dbSNP: rs1553408245
rs1553408245
MSH6
1 1.000 0.160 2 47783357 frameshift variant -/CTTCCCCA delins 0.700 0
dbSNP: rs1553408380
rs1553408380
MSH6
1 1.000 0.160 2 47783445 splice donor variant TCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACC/- delins 0.700 0
dbSNP: rs1553410230
rs1553410230
MSH6 ; FBXO11
1 1.000 0.160 2 47790975 stop gained C/A;T snv 0.700 0
dbSNP: rs63750143
rs63750143
MSH6 ; FBXO11
1 1.000 0.160 2 47791049 missense variant G/A;T snv 0.700 1.000 12 1997 2017
dbSNP: rs3211299
rs3211299
MSH6 ; FBXO11
3 0.882 0.200 2 47791097 missense variant G/T snv 9.4E-04 1.5E-03 0.700 0
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 3 2004 2013
dbSNP: rs63750955
rs63750955
MSH6 ; FBXO11
4 0.925 0.160 2 47798633 frameshift variant -/T delins 1.4E-05 0.700 0
dbSNP: rs267608066
rs267608066
MSH6 ; FBXO11
2 0.925 0.160 2 47798713 stop gained C/G;T snv 0.700 0
dbSNP: rs267608041
rs267608041
MSH6 ; FBXO11
3 1.000 0.160 2 47798718 frameshift variant A/-;AA delins 7.0E-06 0.700 0
dbSNP: rs1057517551
rs1057517551
MSH6 ; FBXO11
3 1.000 0.160 2 47798890 frameshift variant -/T delins 0.700 0
dbSNP: rs587779323
rs587779323
MSH6 ; FBXO11
1 1.000 0.160 2 47798960 missense variant C/T snv 0.700 1.000 9 1997 2012
dbSNP: rs267608077
rs267608077
MSH6 ; FBXO11
4 0.925 0.160 2 47799112 frameshift variant AGAGA/- delins 0.700 0
dbSNP: rs2020908
rs2020908
MSH6 ; FBXO11
1 1.000 0.160 2 47799169 missense variant C/G snv 5.4E-03 5.5E-03 0.700 1.000 9 1997 2012
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
8 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.700 1.000 7 2004 2016
dbSNP: rs878853702
rs878853702
MSH6 ; FBXO11
3 1.000 0.160 2 47799332 frameshift variant AT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs63750909
rs63750909
MSH6 ; FBXO11
4 0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 2 2004 2011
dbSNP: rs61754783
rs61754783
MSH6 ; FBXO11
1 1.000 0.160 2 47799457 missense variant A/G snv 8.0E-05 7.7E-05 0.700 0
dbSNP: rs63750897
rs63750897
MSH6 ; FBXO11
1 1.000 0.160 2 47799491 missense variant C/G;T snv 6.2E-04 5.7E-04 0.700 0
dbSNP: rs63751234
rs63751234
MSH6 ; FBXO11
1 1.000 0.160 2 47799585 frameshift variant C/- del 0.700 0
dbSNP: rs267608064
rs267608064
MSH6 ; FBXO11
4 0.925 0.160 2 47799614 frameshift variant AAAA/-;AA delins 0.700 0
dbSNP: rs63749874
rs63749874
MSH6 ; FBXO11
4 0.925 0.160 2 47799616 frameshift variant AAGA/- delins 0.700 0