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: rs1553413200
rs1553413200
MSH6 ; FBXO11
1.000 0.080 2 47799788 frameshift variant -/A delins
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		0.700 0
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 4 2004 2010
dbSNP: rs63749873
rs63749873
MSH6 ; FBXO11
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 4 1992 2014
dbSNP: rs63750342
rs63750342
MSH6 ; FBXO11
0.925 0.160 2 47791092 stop gained G/A snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 3 1999 2004
dbSNP: rs587783056
rs587783056
MSH6 ; FBXO11
0.925 0.160 2 47799685 frameshift variant TT/- delins 1.4E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 2 2010 2014
dbSNP: rs1060502901
rs1060502901
MSH6 ; FBXO11
1.000 0.160 2 47803435 missense variant T/G snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs1553412495
rs1553412495
MSH6 ; FBXO11
1.000 0.160 2 47799083 missense variant A/G snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs1558664787
rs1558664787
MSH6 ; FBXO11
1.000 0.160 2 47800217 missense variant T/A snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs587779294
rs587779294
MSH6 ; FBXO11
1.000 0.160 2 47806470 stop gained G/A;C;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs587781462
rs587781462
MSH6 ; FBXO11
0.882 0.200 2 47800283 missense variant C/A;G;T snv 1.6E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63749919
rs63749919
MSH6 ; FBXO11
1.000 0.160 2 47800889 missense variant A/C;G;T snv 1.2E-05; 8.2E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63750832
rs63750832
MSH6 ; FBXO11
1.000 0.160 2 47800075 stop gained C/A;G;T snv 8.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs773226008
rs773226008
MSH6 ; FBXO11
1.000 0.160 2 47799428 missense variant G/A;C snv 8.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs267608122
rs267608122
MSH6 ; FBXO11
0.925 0.160 2 47806651 missense variant G/A;C snv
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 10 1994 2016
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: 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: rs267608121
rs267608121
MSH6 ; FBXO11
0.925 0.160 2 47806630 frameshift variant -/GTCA delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 6 2003 2015
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: rs193922343
rs193922343
MSH6 ; FBXO11
0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 3 2008 2015
dbSNP: rs267608094
rs267608094
MSH6 ; FBXO11
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 3 2006 2011
dbSNP: rs267608120
rs267608120
MSH6 ; FBXO11
0.925 0.160 2 47806606 frameshift variant CAAG/- delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 3 2003 2011
dbSNP: rs267608128
rs267608128
MSH6 ; FBXO11
0.925 0.160 2 47806496 frameshift variant -/ATTA delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 3 2010 2012
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: rs63751327
rs63751327
MSH6 ; FBXO11
0.925 0.160 2 47804984 frameshift variant -/A;AA delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 3 2007 2010