rs387907144, ARID1B

N. diseases: 34
Disease: Congenital Epicanthus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012