rs776857280, GALC

N. diseases: 2
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 0.925 0.120 14 87945599 missense variant C/G snv 0.010 1.000 1 2017 2017
Late-Onset Globoid Cell Leukodystrophy
CUI: C0268252
Disease: Late-Onset Globoid Cell Leukodystrophy
1 0.925 0.120 14 87945599 missense variant C/G snv 0.010 1.000 1 2017 2017