FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
Disease: disabling disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143396368
rs143396368
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0596452
Disease:
disabling disease 		0.010 GeneticVariation BEFREE p.R165P patients progress to a less disabling disease state than typical FRDA. 24816001 2014