rs119491110, SLC17A5

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.
Infantile Sialic Acid Storage Disease
CUI: C1096902
Disease: Infantile Sialic Acid Storage Disease
6 1.000 0.120 6 73615425 missense variant G/A;C snv 0.700 0