Variant: rs1554189512

present in Gene: NSD1 present in Chromosome: 5 Position on Chromosome: 177210732 Alleles of this Variant: -/A

rs1554189512 in NSD1 gene and Beckwith-Wiedemann Syndrome PMID 16232326 2005 Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.