Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764731249
rs764731249
ERCC4
0.700 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs764731249
rs764731249
ERCC4
0.700 GeneticVariation UNIPROT Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms. 9580660

1998
dbSNP: rs764731249
rs764731249
ERCC4
0.700 GeneticVariation UNIPROT Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 9579555

1998
dbSNP: rs764731249
rs764731249
ERCC4
0.700 GeneticVariation UNIPROT Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 8797827

1996