rs200532368, GALC

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
111 1.000 0.120 14 87986552 stop gained G/A;C snv 2.4E-05; 4.0E-06 0.700 1.000 5 2010 2016