FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
Disease: disabling disease ×
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: rs143396368
rs143396368 		0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06
CUI: C0596452
Disease: disabling disease
disabling disease 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014