DisGeNET - a database of gene-disease associations

Colorectal cancer, hereditary nonpolyposis, type 1, C2936783

Variant: rs63749849 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63749849

MSH2

0.700

CausalMutation

CLINVAR

Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.

19731080

2010

dbSNP:

rs63749849

MSH2

0.700

CausalMutation

CLINVAR

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

15872200

2005

dbSNP:

rs63749849

MSH2

0.700

CausalMutation

CLINVAR

Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes.

8592341

1995