MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
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: rs119103265
rs119103265
0.827 0.120 1 12002033 missense variant C/T snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
Eye Diseases; Nervous System Diseases 0.020 1.000 2 2006 2011