Disease: Xeroderma Pigmentosum ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs104894132
rs104894132
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0043346
Disease:
Xeroderma Pigmentosum 		A 0.700 CausalMutation CLINVAR Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients. 20534089 2010