TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Spastic Paraplegia ×
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: rs771551765
rs771551765 		0.925 0.200 8 93815388 missense variant G/A snv 8.0E-06 4.2E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 1999 2017