Variant: rs139953766

present in Gene: MBD5 present in Chromosome: 2 Position on Chromosome: 148469905 Alleles of this Variant: C/A;T

rs139953766 in MBD5 gene and Mental Retardation, Autosomal Dominant 1 PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 17847001 2007 Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.