Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312742
rs869312742
SMG9
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 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