Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894132
rs104894132
XPA
A 0.700 CausalMutation CLINVAR Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile. 29208038

2017
dbSNP: rs149226993
rs149226993
XPA
A 0.700 CausalMutation CLINVAR Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients. 27607234

2017
dbSNP: rs1200172747
rs1200172747
XPA
C 0.700 CausalMutation CLINVAR A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities. 26302748

2016
dbSNP: rs754532049
rs754532049
XPC
G 0.700 CausalMutation CLINVAR Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG. 27413738

2016
dbSNP: rs754673606
rs754673606
XPC ; LOC107986063
G 0.700 CausalMutation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178

2016
dbSNP: rs374117852
rs374117852
XPC
A 0.700 CausalMutation CLINVAR Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. 24218596

2013
dbSNP: rs755825264
rs755825264
XPC
A 0.700 CausalMutation CLINVAR Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. 24218596

2013
dbSNP: rs754673606
rs754673606
XPC ; LOC107986063
G 0.700 CausalMutation CLINVAR A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients. 21482201

2011
dbSNP: rs104894132
rs104894132
XPA
A 0.700 CausalMutation CLINVAR Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients. 20534089

2010
dbSNP: rs1200172747
rs1200172747
XPA
C 0.700 CausalMutation CLINVAR Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew. 19917958

2009
dbSNP: rs374117852
rs374117852
XPC
A 0.700 CausalMutation CLINVAR A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC. 17079196

2007
dbSNP: rs752088918
rs752088918
XPC
G 0.700 CausalMutation CLINVAR A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC. 17079196

2007
dbSNP: rs374117852
rs374117852
XPC
A 0.700 CausalMutation CLINVAR Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. 16081512

2006
dbSNP: rs752088918
rs752088918
XPC
G 0.700 CausalMutation CLINVAR Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. 16081512

2006
dbSNP: rs754532049
rs754532049
XPC
G 0.700 CausalMutation CLINVAR Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. 16081512

2006
dbSNP: rs755825264
rs755825264
XPC
A 0.700 CausalMutation CLINVAR Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. 16081512

2006
dbSNP: rs752088918
rs752088918
XPC
G 0.700 CausalMutation CLINVAR Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. 11121128

2000
dbSNP: rs1200172747
rs1200172747
XPA
C 0.700 CausalMutation CLINVAR Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. 9671271

1998
dbSNP: rs1554701103
rs1554701103
XPA
CT 0.700 GeneticVariation CLINVAR Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. 9671271

1998
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: rs776705174
rs776705174
ERCC2
CA 0.700 GeneticVariation CLINVAR Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. 7920640

1994
dbSNP: rs149226993
rs149226993
XPA
A 0.700 CausalMutation CLINVAR Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum. 1372103

1992
dbSNP: rs1283214655
rs1283214655
ERCC5 ; BIVM-ERCC5
AT 0.700 GeneticVariation CLINVAR

dbSNP: rs121913049
rs121913049
ERCC4
0.020 GeneticVariation BEFREE We also observed associations with relevant traits for heterozygous carriers of some rare recessive conditions, e.g., heterozygous carriers of the ERCC4 c.2395C>T (p.Arg799Trp) variant that causes Xeroderma pigmentosum were more susceptible to sunburn. 30665703

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.020 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