DisGeNET - a database of gene-disease associations

rs4939567, SMAD7

N. diseases: 9

Disease: Malignant neoplasm of large intestine ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Malignant neoplasm of large intestine

CUI:	C0346629
Disease:	Malignant neoplasm of large intestine

0.700

GeneticVariation

GWASCAT

GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.

2018