DisGeNET - a database of gene-disease associations

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, C1860896

Variant: rs34833812 ×

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:

rs34833812

rs34833812

TGFBR2

0.800

GeneticVariation

UNIPROT

HNPCC associated with germline mutation in the TGF-beta type II receptor gene.

1998

dbSNP:

rs34833812

rs34833812

TGFBR2

T

0.800

CausalMutation

CLINVAR