Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434576
rs121434576
ERCC5 ; BIVM-ERCC5
0.710 GeneticVariation UNIPROT Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. 23255472

2013
dbSNP: rs121434576
rs121434576
ERCC5 ; BIVM-ERCC5
0.710 GeneticVariation BEFREE The XP65BE maternal allele had a single base missense mutation (G2817A, Ala874Thr) that showed residual ability to complement xeroderma pigmentosum complementation group G cells. 12060391

2002
dbSNP: rs121434576
rs121434576
ERCC5 ; BIVM-ERCC5
0.710 GeneticVariation UNIPROT The XP65BE maternal allele had a single base missense mutation (G2817A, Ala874Thr) that showed residual ability to complement xeroderma pigmentosum complementation group G cells. 12060391

2002
dbSNP: rs121434576
rs121434576
ERCC5 ; BIVM-ERCC5
0.710 GeneticVariation UNIPROT The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. 11841555

2002
dbSNP: rs121434576
rs121434576
ERCC5 ; BIVM-ERCC5
0.710 GeneticVariation UNIPROT Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 11228268

2001
dbSNP: rs121434576
rs121434576
ERCC5 ; BIVM-ERCC5
0.710 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs121434576
rs121434576
ERCC5 ; BIVM-ERCC5
0.710 GeneticVariation UNIPROT A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355

1997
dbSNP: rs121434576
rs121434576
ERCC5 ; BIVM-ERCC5
0.710 GeneticVariation UNIPROT Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. 7951246

1994