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: rs770485731
rs770485731
GALC
1.000 0.120 14 87950724 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.800 1.000 8 1988 2016