Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138471431
rs138471431
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		0.010 GeneticVariation BEFREE In agreement, the iron metallochaperone activity of the Friedreich's ataxia mutants was affected: some mutants precipitate upon iron binding (I154F and W155R) and others have a lower binding stoichiometry (G130V and D122Y). 18537827

2008