Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555155263
rs1555155263
A 0.700 CausalMutation CLINVAR Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. 28884947

2017

dbSNP: rs1555155263
rs1555155263
A 0.700 CausalMutation CLINVAR Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. 28124119

2017

dbSNP: rs1555155263
rs1555155263
A 0.700 CausalMutation CLINVAR Mutations in ARID2 are associated with intellectual disabilities. 26238514

2015

dbSNP: rs1555155263
rs1555155263
A 0.700 CausalMutation CLINVAR PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes. 15985610

2005