Disease: Neurologic Symptoms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1170251457
rs1170251457
Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0235031
Disease:
Neurologic Symptoms 		0.010 GeneticVariation BEFREE A homozygous non-sense XPA mutation (p.W235X) was found in the only patient with a history of early severe sunburn reaction and associated neurological symptoms. 29178624 2018