Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556886127
rs1556886127
SMC1A
CTGCA 0.700 GeneticVariation CLINVAR Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 17221863

2007