ERLIN2, ER lipid raft associated 2, 11160

N. diseases: 85; N. variants: 4
Disease: Spastic Paraplegia, Hereditary ×
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: rs763958615
rs763958615 		1.000 0.080 8 37753994 missense variant A/G;T snv 8.0E-06
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017