rs780163791, AHI1

N. diseases: 2
Disease: Ciliopathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ciliopathies
CUI: C4277690
Disease: Ciliopathies
0.010 GeneticVariation BEFREE By whole-exome sequencing (WES) in a consanguineous family with congenital non-syndromic deafness, we unexpectedly identified a homozygous nonsense variant, p.Arg1066*, in AHI1, a gene associated with Joubert syndrome (JBTS), a severe recessive ciliopathy. 25616960 2015