OPA1, OPA1 mitochondrial dynamin like GTPase, 4976

N. diseases: 236; N. variants: 68
Disease: Muscle hypotonia ×
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: rs794727804
rs794727804 		1.000 3 193631621 frameshift variant AA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 2003 2017
dbSNP: rs80356529
rs80356529 		0.827 0.240 3 193643996 missense variant G/A;C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 2003 2017