Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045069
rs797045069
SMC1A
C 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs797045069
rs797045069
SMC1A
C 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019