NBEAL2, neurobeachin like 2, 23218

N. diseases: 78; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749896920
rs749896920
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
CUI: C0272302
Disease:
Gray Platelet Syndrome 		0.700 GeneticVariation UNIPROT Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413 2011