Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs748573754
rs748573754
GALC
1.000 0.120 14 87945566 missense variant C/T snv 8.0E-06
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 4 1995 2014