rs794729653, SLC17A5

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.
Infantile Sialic Acid Storage Disease
CUI: C1096902
Disease: Infantile Sialic Acid Storage Disease
6 0.925 0.120 6 73641807 frameshift variant T/- delins 0.700 1.000 2 1999 2005
Sialic Acid Storage Disease, Finnish Type (disorder)
CUI: C1096903
Disease: Sialic Acid Storage Disease, Finnish Type (disorder)
44 0.925 0.120 6 73641807 frameshift variant T/- delins 0.700 1.000 2 1999 2005