DPF2, double PHD fingers 2, 5977

N. diseases: 99; N. variants: 6
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555031372
rs1555031372
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		T 0.700 CausalMutation CLINVAR Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018