rs80338794, SLC17A5

N. diseases: 3
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.
Sialic Acid Storage Disease, Finnish Type (disorder)
CUI: C1096903
Disease: Sialic Acid Storage Disease, Finnish Type (disorder)
44 0.882 0.120 6 73644583 missense variant G/A snv 8.3E-04 4.8E-04 0.870 1.000 14 1999 2011
Infantile Sialic Acid Storage Disease
CUI: C1096902
Disease: Infantile Sialic Acid Storage Disease
6 0.882 0.120 6 73644583 missense variant G/A snv 8.3E-04 4.8E-04 0.730 0.667 3 1999 2005
Sialuria
CUI: C0342853
Disease: Sialuria
17 0.882 0.120 6 73644583 missense variant G/A snv 8.3E-04 4.8E-04 0.070 1.000 7 1999 2011