PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder) ×
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: rs398123467
rs398123467 		0.925 0.120 X 103789373 missense variant G/C snv
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0