DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 ×

Gene: MSH6 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1057517551

MSH6 ; FBXO11

1.000

0.160

47798890

frameshift variant

-/T

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1057517552

MSH6 ; FBXO11

1.000

0.160

47803459

frameshift variant

GTCCTATG/-

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1553331659

MSH6 ; FBXO11

1.000

0.160

47803615

frameshift variant

A/-;AA

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1553333093

MSH6 ; FBXO11

1.000

0.160

47806310

frameshift variant

GTAGAAGATTA/-

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1553333370

MSH6 ; FBXO11

1.000

0.160

47806485

frameshift variant

CCAGGAG/-

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1553333753

MSH6 ; FBXO11

0.925

0.160

47806643

splice donor variant

-/ATTT

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1553408127

MSH6

1.000

0.160

47783288

frameshift variant

G/-

del

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1553408245

MSH6

1.000

0.160

47783357

frameshift variant

-/CTTCCCCA

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1553408380

MSH6

1.000

0.160

47783445

splice donor variant

TCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACC/-

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1553410230

MSH6 ; FBXO11

1.000

0.160

47790975

stop gained

C/A;T

snv

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1553414029

MSH6 ; FBXO11

1.000

0.160

47800675

frameshift variant

CC/-

del

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1553414239

MSH6 ; FBXO11

0.925

0.160

47800856

frameshift variant

AG/-

del

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs1553414395

MSH6 ; FBXO11

0.925

0.160

47801001

stop gained

C/A;G;T

snv

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs193922343

MSH6 ; FBXO11

0.925

0.160

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

2008

2015

dbSNP:

rs267608041

MSH6 ; FBXO11

1.000

0.160

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

dbSNP:

rs267608058

MSH6 ; FBXO11

0.851

0.200

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

1999

2012

dbSNP:

rs267608064

MSH6 ; FBXO11

0.925

0.160

47799614

frameshift variant

AAAA/-;AA

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs267608066

MSH6 ; FBXO11

0.925

0.160

47798713

stop gained

C/G;T

snv

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs267608077

MSH6 ; FBXO11

0.925

0.160

47799112

frameshift variant

AGAGA/-

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs267608078

MSH6 ; FBXO11

0.882

0.160

47803501

frameshift variant

C/-;CC;CCC

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

1.000

1999

2008

dbSNP:

rs267608092

MSH6 ; FBXO11

0.925

0.160

47803553

frameshift variant

TT/-;T;TTT

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

dbSNP:

rs267608094

MSH6 ; FBXO11

0.925

0.160

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

2006

2011

dbSNP:

rs267608098

MSH6 ; FBXO11

0.925

0.160

47804908

splice acceptor variant

A/G;T

snv

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

1.000

1999

2010

dbSNP:

rs267608120

MSH6 ; FBXO11

0.925

0.160

47806606

frameshift variant

CAAG/-

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

1.000

2003

2011

dbSNP:

rs267608121

MSH6 ; FBXO11

0.925

0.160

47806630

frameshift variant

-/GTCA

delins

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

1.000

2003

2015