MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Lipomatosis, Multiple Symmetrical ×
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: rs119103267
rs119103267 		0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04
CUI: C0023804
Disease: Lipomatosis, Multiple Symmetrical
Lipomatosis, Multiple Symmetrical 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2015 2019