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
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 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
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: 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