Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434575
rs121434575
ERCC5 ; BIVM-ERCC5
0.800 GeneticVariation UNIPROT Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. 23255472

2013
dbSNP: rs121434575
rs121434575
ERCC5 ; BIVM-ERCC5
0.800 GeneticVariation UNIPROT Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. 12060391

2002
dbSNP: rs121434575
rs121434575
ERCC5 ; BIVM-ERCC5
0.800 GeneticVariation UNIPROT The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. 11841555

2002
dbSNP: rs121434575
rs121434575
ERCC5 ; BIVM-ERCC5
0.800 GeneticVariation UNIPROT Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 11228268

2001
dbSNP: rs121434575
rs121434575
ERCC5 ; BIVM-ERCC5
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs121434575
rs121434575
ERCC5 ; BIVM-ERCC5
0.800 GeneticVariation UNIPROT A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355

1997
dbSNP: rs121434575
rs121434575
ERCC5 ; BIVM-ERCC5
0.800 GeneticVariation UNIPROT Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. 7951246

1994
dbSNP: rs121434575
rs121434575
ERCC5 ; BIVM-ERCC5
C 0.800 CausalMutation CLINVAR