OPA1, OPA1 mitochondrial dynamin like GTPase, 4976

N. diseases: 236; N. variants: 68
Disease: Disorder of the optic nerve ×
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: rs138350727
rs138350727 		1.000 0.080 3 193626153 missense variant G/A;T snv 3.2E-05; 4.0E-06
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008