Variant: rs1554499814 

    present in Gene: EZH2
    present in Chromosome: 7
    Position on Chromosome: 148829806
    Alleles of this Variant: C/G

rs1554499814 in EZH2 gene and Dysmorphic features PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 22190405 2011 Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

PMID 24214728 2013 Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

PMID 9781912 1998 Weaver syndrome: autosomal dominant inheritance of the disorder.

PMID 22177091 2012 Mutations in EZH2 cause Weaver syndrome.

rs1554499814 in EZH2 gene and Overgrowth PMID 24214728 2013 Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

PMID 9781912 1998 Weaver syndrome: autosomal dominant inheritance of the disorder.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 22177091 2012 Mutations in EZH2 cause Weaver syndrome.

PMID 22190405 2011 Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.