rs794729195, AHI1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
JOUBERT SYNDROME 3
CUI: C1837713
Disease: JOUBERT SYNDROME 3
0.700 GeneticVariation CLINVAR Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. 15467982 2004
Joubert syndrome 1
CUI: C4551568
Disease: Joubert syndrome 1
0.700 GeneticVariation CLINVAR