Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167303
rs1114167303
SON
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		T 0.700 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016