Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729653
rs794729653
SLC17A5
A 0.700 GeneticVariation CLINVAR Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. 15805149

2005
dbSNP: rs794729653
rs794729653
SLC17A5
A 0.700 GeneticVariation CLINVAR A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. 10581036

1999