Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 1 2015 2015
dbSNP: rs1553408127
rs1553408127
MSH6
1.000 0.160 2 47783288 frameshift variant G/- del
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs1553408245
rs1553408245
MSH6
1.000 0.160 2 47783357 frameshift variant -/CTTCCCCA delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs1553408380
rs1553408380
MSH6
1.000 0.160 2 47783445 splice donor variant TCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACC/- delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs1553410230
rs1553410230
MSH6 ; FBXO11
1.000 0.160 2 47790975 stop gained C/A;T snv
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs63749873
rs63749873
MSH6 ; FBXO11
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 3 2004 2013
dbSNP: rs63750955
rs63750955
MSH6 ; FBXO11
0.925 0.160 2 47798633 frameshift variant -/T delins 1.4E-05
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs267608066
rs267608066
MSH6 ; FBXO11
0.925 0.160 2 47798713 stop gained C/G;T snv
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs267608041
rs267608041
MSH6 ; FBXO11
1.000 0.160 2 47798718 frameshift variant A/-;AA delins 7.0E-06
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs1057517551
rs1057517551
MSH6 ; FBXO11
1.000 0.160 2 47798890 frameshift variant -/T delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs267608077
rs267608077
MSH6 ; FBXO11
0.925 0.160 2 47799112 frameshift variant AGAGA/- delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 7 2004 2016
dbSNP: rs878853702
rs878853702
MSH6 ; FBXO11
1.000 0.160 2 47799332 frameshift variant AT/- delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 1 2016 2016
dbSNP: rs63750909
rs63750909
MSH6 ; FBXO11
0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 2 2004 2011
dbSNP: rs63751234
rs63751234
MSH6 ; FBXO11
1.000 0.160 2 47799585 frameshift variant C/- del
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs267608064
rs267608064
MSH6 ; FBXO11
0.925 0.160 2 47799614 frameshift variant AAAA/-;AA delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs63749874
rs63749874
MSH6 ; FBXO11
0.925 0.160 2 47799616 frameshift variant AAGA/- delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs864622153
rs864622153
MSH6 ; FBXO11
1.000 0.160 2 47799674 stop gained C/A;G;T snv 4.0E-06
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs730881816
rs730881816
MSH6 ; FBXO11
0.925 0.160 2 47799788 stop gained C/A;G snv
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 1 2016 2016
dbSNP: rs63750735
rs63750735
MSH6 ; FBXO11
0.925 0.160 2 47799789 frameshift variant AAAG/- del
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs777159874
rs777159874
MSH6 ; FBXO11
1.000 0.160 2 47799853 frameshift variant G/- delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 0
dbSNP: rs587779227
rs587779227
MSH6 ; FBXO11
0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 8 2008 2017
dbSNP: rs267608058
rs267608058
MSH6 ; FBXO11
0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 5 1999 2012
dbSNP: rs786201050
rs786201050
MSH6 ; FBXO11
0.925 0.160 2 47800211 frameshift variant -/G delins 7.0E-06
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 2 2013 2017
dbSNP: rs587779241
rs587779241
MSH6 ; FBXO11
0.925 0.160 2 47800517 frameshift variant -/T delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 1 2010 2010