Disease: Melanocortin 4 Receptor Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516044
rs1057516044
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C4054546
Disease:
Melanocortin 4 Receptor Deficiency 		G 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