Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147105770
rs147105770
ERCC4
0.710 GeneticVariation BEFREE The missense mutation p.Arg589Trp was previously detected in patients diagnosed with Xeroderma pigmentosum or Cockayne syndrome. 29325523

2018
dbSNP: rs147105770
rs147105770
ERCC4
T 0.710 GeneticVariation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178

2016
dbSNP: rs147105770
rs147105770
ERCC4
T 0.710 GeneticVariation CLINVAR Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. 26453996

2015
dbSNP: rs147105770
rs147105770
ERCC4
T 0.710 GeneticVariation CLINVAR The ERCC1 and ERCC4 (XPF) genes and gene products. 26074087

2015
dbSNP: rs147105770
rs147105770
ERCC4
T 0.710 GeneticVariation CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389

2013
dbSNP: rs147105770
rs147105770
ERCC4
T 0.710 GeneticVariation CLINVAR Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. 21612988

2011
dbSNP: rs147105770
rs147105770
ERCC4
T 0.710 GeneticVariation CLINVAR Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. 20221251

2010