DisGeNET - a database of gene-disease associations

Xeroderma pigmentosum, group F, C0268140

Variant: rs2276466 ×

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:

rs2276466

ERCC4

0.040

GeneticVariation

BEFREE

Impact of XPF rs2276466 polymorphism on cancer susceptibility: a meta-analysis.

31040199

2019

dbSNP:

rs2276466

ERCC4

0.040

GeneticVariation

BEFREE

We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer.

24861646

2014

dbSNP:

rs2276466

ERCC4

0.040

GeneticVariation

BEFREE

However, we did not find an association with increased risk of glioma for the polymorphisms rs3136038, rs1799798, and rs2276466 in XPF.

24938470

2014

dbSNP:

rs2276466

ERCC4

0.040

GeneticVariation

BEFREE

Genotyping of ERCC1 (rs2298881, rs3212986, and rs11615) and XPF (rs2276465, rs6498486, and rs2276466) was performed in a 384-well plate format on the MassARRAY(®) platform.

23909490

2013