rs778543124, XPA

N. diseases: 35
Disease: Xeroderma pigmentosum, group A ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Xeroderma pigmentosum, group A
CUI: C0268135
Disease: Xeroderma pigmentosum, group 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
Xeroderma pigmentosum, group A
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
0.700 CausalMutation CLINVAR