Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503773
rs727503773
SMC1A
C 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs727503773
rs727503773
SMC1A
C 0.700 CausalMutation CLINVAR SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. 19701948

2009