Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913049
rs121913049
ERCC4
T 0.700 CausalMutation CLINVAR Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. 21612988

2011
dbSNP: rs121913049
rs121913049
ERCC4
T 0.700 CausalMutation CLINVAR Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. 20221251

2010
dbSNP: rs121913049
rs121913049
ERCC4
T 0.700 CausalMutation CLINVAR Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 9579555

1998
dbSNP: rs121913049
rs121913049
ERCC4
T 0.700 CausalMutation CLINVAR Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 8797827

1996