DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Colorectal Carcinoma ×

Variant: rs2227935 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs2227935

rs2227935

BLM

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.010

GeneticVariation

BEFREE

Although none of them showed a significant association with CRC, the association of BLM P868L with rectal cancer risk requires further investigation.

2010