Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123009
rs398123009
PACS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015