rs758316679, ABHD12

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 CausalMutation CLINVAR Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. 22938382 2012