Variant: rs1553722309

present in Gene: STAG1 present in Chromosome: 3 Position on Chromosome: 136443400 Alleles of this Variant: T/G

rs1553722309 in STAG1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 PMID 28119487 2017 STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.