Variant: rs1555155263 

    present in Gene: ARID2;LOC105369745
    present in Chromosome: 12
    Position on Chromosome: 45851563
    Alleles of this Variant: TTAC/-

rs1555155263 in ARID2;LOC105369745 gene and Dysmorphic features PMID 15985610 2005 PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes.

PMID 26238514 2015 Mutations in ARID2 are associated with intellectual disabilities.

PMID 28124119 2017 Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

PMID 28884947 2017 Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.