NBEA, neurobeachin, 26960

N. diseases: 5; N. variants: 9
Disease: Moderate intellectual disability ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312667
rs869312667
Entrez Id: 26960
Gene Symbol: NBEA
NBEA
CUI: C0026351
Disease:
Moderate intellectual disability 		T 0.700 GeneticVariation CLINVAR NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 30269351 2018