Disease: Xeroderma pigmentosum, group A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778543124
rs778543124
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 GeneticVariation CLINVAR XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. 20574439 2010
dbSNP: rs778543124
rs778543124
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0268135
Disease:
Xeroderma pigmentosum, group A 		A 0.700 CausalMutation CLINVAR