Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519565
rs1057519565
DEAF1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017