Gene: BIVM-ERCC5 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434570
rs121434570
ERCC5 ; BIVM-ERCC5
T 0.700 CausalMutation CLINVAR Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. 7951246

1994
dbSNP: rs1283214655
rs1283214655
ERCC5 ; BIVM-ERCC5
AT 0.700 GeneticVariation CLINVAR

dbSNP: rs929424117
rs929424117
ERCC5 ; BIVM-ERCC5
0.010 GeneticVariation BEFREE Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype. 30838033

2019
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.010 GeneticVariation BEFREE The present study has genotyped 334 subjects from North Indian population for xeroderma pigmentosum complementation Group C (XPC) rs2228001A>C, XPC rs77907221 polyadenylate (PAT) deletion/insertion (D/I), xeroderma pigmentosum complementation Group D - rs13181A>C, and xeroderma pigmentosum complementation Type G rs17655 G>C polymorphisms with polymerase chain reaction (PCR)-restriction-fragment length polymorphism or allele-specific PCR methods. 29893334

2018
dbSNP: rs770998368
rs770998368
ERCC5 ; BIVM-ERCC5
0.010 GeneticVariation BEFREE We have studied 11 polymorphisms in genes of drug detoxification pathways (NQO1, glutathione S-transferase pi) and DNA repair xeroderma pigmentosum, complementation group (3) (XPC(3), X-ray repair cross complementing protein (1)), Nijmegen breakage syndrome (1), excision repair cross-complementing rodent repair deficiency, complementation group (5) and X-ray repair cross complementing protein (3) and in the methylene tetrahydrofolate reductase gene (MTHFR(2), 677C>T, 1298A>C), involved in DNA synthesis. 17476281

2007