rs752746786, GNB1

N. diseases: 30
Disease: Cortical visual impairment ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016