Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746617574
rs746617574
XPA
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999

dbSNP: rs746617574
rs746617574
XPA
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
XPA
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
XPA
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
XPA
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: rs104894131
rs104894131
XPA
0.700 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999

dbSNP: rs144725456
rs144725456
XPA
0.700 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999

dbSNP: rs104894131
rs104894131
XPA
0.700 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: rs144725456
rs144725456
XPA
0.700 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: rs104894131
rs104894131
XPA
0.700 GeneticVariation UNIPROT The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene. 8504220

1993

dbSNP: rs144725456
rs144725456
XPA
0.700 GeneticVariation UNIPROT The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene. 8504220

1993

dbSNP: rs104894131
rs104894131
XPA
0.700 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: rs104894131
rs104894131
XPA
0.700 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: rs144725456
rs144725456
XPA
0.700 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: rs144725456
rs144725456
XPA
0.700 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