GALC, galactosylceramidase, 2581

N. diseases: 99; N. variants: 119
Disease: Late-Onset Globoid Cell Leukodystrophy ×
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: rs776857280
rs776857280 		0.925 0.120 14 87945599 missense variant C/G snv
CUI: C0268252
Disease: Late-Onset Globoid Cell Leukodystrophy
Late-Onset Globoid Cell Leukodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017