TMEM240, transmembrane protein 240, 339453

N. diseases: 40; N. variants: 8
Disease: Myoclonus ×
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: rs1057518011
rs1057518011 		1 1535766 missense variant C/T snv
CUI: C0027066
Disease: Myoclonus
Myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019