TMEM126B, transmembrane protein 126B, 55863

N. diseases: 56; N. variants: 4
Disease: Mitochondrial Diseases ×
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: rs886037835
rs886037835 		1.000 11 85635669 frameshift variant A/- delins
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016