DisGeNET - a database of gene-disease associations

Esophageal Neoplasms, C0014859

Variant: rs1799782 ×

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:

rs1799782

XRCC1

0.030

GeneticVariation

BEFREE

Our meta-analysis suggested that Arg194Trp Trp allele might act as a risk allele in its association with esophageal cancer.

23543084

2013

dbSNP:

rs1799782

XRCC1

0.030

GeneticVariation

BEFREE

In the subgroup analysis by cancer sites, the Arg194Trp polymorphism was associated with increased risks of lung cancer (OR = 1.27 and 95%CI: 1.07-1.50 for Trp/Trp versus Arg/Arg + Arg/Trp) and esophageal cancer (OR = 1.68 and 95%CI: 1.33-2.13 for Trp/Trp versus Arg/Arg + Arg/Trp).

21499756

2011

dbSNP:

rs1799782

XRCC1

0.030

GeneticVariation

BEFREE

Two non-synonymous polymorphisms Arg194Trp and Arg399Gln in the DNA-base excision repair gene X-ray repair cross-complementing group 1 (XRCC1) have been implicated in risk for esophageal cancer.

19444915

2009