rs1057519565, DEAF1

N. diseases: 9
Disease: Relative macrocephaly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017