rs1057516037, HDAC8

N. diseases: 4
Disease: CORNELIA DE LANGE SYNDROME 5 ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CORNELIA DE LANGE SYNDROME 5
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016