rs1057517187, 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 87992961 splice donor variant CACCCCGCCGCCGCT/- delins 0.700 0