Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312741
Entrez Id: 56006
Gene Symbol: SMG9
CUI: C1855677
Brainstem dysplasia
T 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016