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: rs387907114
rs387907114
NBEAL2
0.800 GeneticVariation UNIPROT NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 21765412

2011
dbSNP: rs387907114
rs387907114
NBEAL2
0.800 GeneticVariation UNIPROT Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 21765411

2011
dbSNP: rs387907114
rs387907114
NBEAL2
0.800 GeneticVariation UNIPROT Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413

2011
dbSNP: rs387907115
rs387907115
NBEAL2
0.800 GeneticVariation UNIPROT Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 21765411

2011
dbSNP: rs387907115
rs387907115
NBEAL2
0.800 GeneticVariation UNIPROT NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 21765412

2011
dbSNP: rs387907115
rs387907115
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

dbSNP: rs387907114
rs387907114
NBEAL2
T 0.800 CausalMutation CLINVAR

dbSNP: rs387907115
rs387907115
NBEAL2
T 0.800 CausalMutation CLINVAR

dbSNP: rs1357067113
rs1357067113
NBEAL2
0.700 GeneticVariation UNIPROT Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 21765411

2011
dbSNP: rs1357067113
rs1357067113
NBEAL2
0.700 GeneticVariation UNIPROT NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 21765412

2011
dbSNP: rs1357067113
rs1357067113
NBEAL2
0.700 GeneticVariation UNIPROT Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413

2011
dbSNP: rs749896920
rs749896920
NBEAL2
0.700 GeneticVariation UNIPROT Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. 21765413

2011
dbSNP: rs749896920
rs749896920
NBEAL2
0.700 GeneticVariation UNIPROT NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. 21765412

2011
dbSNP: rs749896920
rs749896920
NBEAL2
0.700 GeneticVariation UNIPROT Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. 21765411

2011
dbSNP: rs1341020147
rs1341020147
NBEAL2
0.700 GeneticVariation UNIPROT

dbSNP: rs1553659758
rs1553659758
NBEAL2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553663498
rs1553663498
NBEAL2
T 0.700 CausalMutation CLINVAR

dbSNP: rs372277612
rs372277612
NBEAL2
G 0.700 CausalMutation CLINVAR

dbSNP: rs387907112
rs387907112
NBEAL2
T 0.700 CausalMutation CLINVAR

dbSNP: rs750160418
rs750160418
NBEAL2
0.700 GeneticVariation UNIPROT

dbSNP: rs794726682
rs794726682
NBEAL2
A 0.700 CausalMutation CLINVAR