Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746617574
rs746617574
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		G 0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs746617574
rs746617574
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs746617574
rs746617574
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		0.800 GeneticVariation UNIPROT 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: rs746617574
rs746617574
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		G 0.800 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: rs746617574
rs746617574
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		0.800 GeneticVariation UNIPROT The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene. 8504220 1993
dbSNP: rs746617574
rs746617574
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		G 0.800 GeneticVariation 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: rs746617574
rs746617574
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		0.800 GeneticVariation UNIPROT Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. 1339397 1992
dbSNP: rs746617574
rs746617574
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		0.800 GeneticVariation UNIPROT 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: rs104894132
rs104894132
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0043346
Disease:
Xeroderma Pigmentosum 		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: rs104894133
rs104894133
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population. 27982466 2017
dbSNP: rs149226993
rs149226993
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 GeneticVariation CLINVAR Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients. 27607234 2017
dbSNP: rs149226993
rs149226993
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0043346
Disease:
Xeroderma Pigmentosum 		A 0.700 CausalMutation CLINVAR Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients. 27607234 2017
dbSNP: rs1554701532
rs1554701532
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 GeneticVariation CLINVAR Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population. 27982466 2017
dbSNP: rs750218942
rs750218942
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		G 0.700 CausalMutation CLINVAR Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients. 27607234 2017
dbSNP: rs769255883
rs769255883
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		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
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0043346
Disease:
Xeroderma Pigmentosum 		C 0.700 CausalMutation CLINVAR A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities. 26302748 2016
dbSNP: rs1200172747
rs1200172747
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		C 0.700 CausalMutation CLINVAR Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. 25566891 2015
dbSNP: rs1554701540
rs1554701540
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		C 0.700 GeneticVariation CLINVAR Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. 25566891 2015
dbSNP: rs750218942
rs750218942
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		G 0.700 CausalMutation CLINVAR Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population. 25256075 2015
dbSNP: rs886039226
rs886039226
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		TTTCTTATG 0.700 CausalMutation CLINVAR Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. 25566891 2015
dbSNP: rs750218942
rs750218942
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		G 0.700 CausalMutation CLINVAR Ancient origin of a Japanese xeroderma pigmentosum founder mutation. 23194742 2013
dbSNP: rs769255883
rs769255883
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 CausalMutation CLINVAR Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity. 22081045 2012
dbSNP: rs104894132
rs104894132
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 CausalMutation CLINVAR Among 7/8 XP-A patients, we found the previously reported nonsense homozygous XPA mutation (p.Arg228X). 20054342 2010
dbSNP: rs104894132
rs104894132
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 CausalMutation CLINVAR Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients. 20534089 2010
dbSNP: rs104894132
rs104894132
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 CausalMutation CLINVAR Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family. 20199544 2010