SMC3, structural maintenance of chromosomes 3, 9126

N. diseases: 193; N. variants: 21
Disease: Cornelia de Lange Syndrome 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564792181
rs1564792181
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C1853099
Disease:
Cornelia de Lange Syndrome 3 		T 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019