Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201284672
rs201284672
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096902
Disease:
Infantile Sialic Acid Storage Disease
C 0.700 CausalMutation CLINVAR