FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
Disease: Friedreich Ataxia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142157346
rs142157346 		0.882 0.160 9 69053240 missense variant G/T snv
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008