PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: PELIZAEUS-MERZBACHER DISEASE, CONNATAL ×
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: rs132630286
rs132630286 		0.925 0.120 X 103788475 missense variant G/T snv
CUI: C4016483
Disease: PELIZAEUS-MERZBACHER DISEASE, CONNATAL
PELIZAEUS-MERZBACHER DISEASE, CONNATAL 		0.700 0
dbSNP: rs132630293
rs132630293 		0.925 0.120 X 103789361 missense variant C/T snv
CUI: C4016483
Disease: PELIZAEUS-MERZBACHER DISEASE, CONNATAL
PELIZAEUS-MERZBACHER DISEASE, CONNATAL 		0.700 0