rs1057516044, ABCC9

N. diseases: 9
Disease: Macrostomia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Macrostomia
CUI: C0024433
Disease: Macrostomia
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