Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907113
rs387907113
NBEAL2
0.800 GeneticVariation UNIPROT NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 21765412

2011
dbSNP: rs387907113
rs387907113
NBEAL2
0.800 GeneticVariation UNIPROT Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 21765411

2011
dbSNP: rs387907113
rs387907113
NBEAL2
0.800 GeneticVariation UNIPROT Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413

2011
dbSNP: rs387907113
rs387907113
NBEAL2
C 0.800 CausalMutation CLINVAR