Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918555
rs121918555
TUBB1
T 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs387907348
rs387907348
ACTN1
T 0.710 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs387907348
rs387907348
ACTN1
0.710 GeneticVariation BEFREE Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln) in the alpha-actinin 1 gene (ACTN1) that segregated with macrothrombocytopenia in this large pedigree. 24069336

2013
dbSNP: rs121918555
rs121918555
TUBB1
0.710 GeneticVariation BEFREE We identified the first TUBB1 mutation, R318W, in a patient with congenital macrothrombocytopenia. 18849486

2009
dbSNP: rs121908063
rs121908063
CHRNE ; GP1BA
T 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs121918037
rs121918037
GP9
C 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs387907345
rs387907345
ACTN1
T 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs387907350
rs387907350
ACTN1
T 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs5030764
rs5030764
GP9
G 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs121909752
rs121909752
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1297298519
rs1297298519
GP9
C 0.700 CausalMutation CLINVAR

dbSNP: rs387907349
rs387907349
ACTN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs371852125
rs371852125
TUBB1
0.010 GeneticVariation BEFREE High-throughput screening led to the detection of a predicted disease-causing heterozygous mutation in the TUBB1 gene: p.G146R, encoding β1-tubulin, a component of the platelet cytoskeleton and a gene where mutations are a known cause of MTP. 31565851

2019
dbSNP: rs1064797086
rs1064797086
FLI1
0.010 GeneticVariation BEFREE This strategy led to the identification of two novel <i>FLI1</i> variants (c.1010G>A and c.1033A>G) responsible for macrothrombocytopenia. 28255014

2017
dbSNP: rs1064797087
rs1064797087
FLI1
0.010 GeneticVariation BEFREE This strategy led to the identification of two novel <i>FLI1</i> variants (c.1010G>A and c.1033A>G) responsible for macrothrombocytopenia. 28255014

2017
dbSNP: rs1213948992
rs1213948992
FLI1
0.010 GeneticVariation BEFREE This strategy led to the identification of two novel <i>FLI1</i> variants (c.1010G>A and c.1033A>G) responsible for macrothrombocytopenia. 28255014

2017
dbSNP: rs527297896
rs527297896
GFI1B
0.010 GeneticVariation BEFREE Results The DNA-binding GFI1B variant C168F, which is predicted to disrupt the first non-DNA-binding zinc-finger domain, is associated with macrothrombocytopenia without α-granule deficiency or bleeding symptoms. 28880435

2017
dbSNP: rs61749397
rs61749397
VWF
0.010 GeneticVariation BEFREE These data indicate, to our knowledge for the first time, that the severe macrothrombocytopenia in VWD-type 2B p.V1316M is due to an MK dysfunction that originates from a constitutive activation of the RhoA/LIMK/cofilin pathway and actin disorganization. 27734030

2016
dbSNP: rs876657776
rs876657776
DIAPH1
0.010 GeneticVariation BEFREE We describe 2 unrelated pedigrees with MTP and sensorineural hearing loss that segregate with a DIAPH1 R1213* variant predicting partial truncation of the DIAPH1 diaphanous autoregulatory domain. 26912466

2016
dbSNP: rs724159972
rs724159972
PRKACG
0.010 GeneticVariation BEFREE Exome sequencing identified a c.222C>G mutation (missense p.74Ile>Met) in PRKACG, a gene encoding the γ-catalytic subunit of the cyclic adenosine monophosphate-dependent protein kinase, the mutated allele cosegregating with the macrothrombocytopenia. 25061177

2014
dbSNP: rs80338826
rs80338826
MYH9
0.010 GeneticVariation BEFREE R702C knock-in hetero mice (R702C+/- mice) showed macrothrombocytopenia. 23976996

2013
dbSNP: rs121908065
rs121908065
CHRNE ; GP1BA
0.010 GeneticVariation BEFREE However, some years ago it was shown that the monoallelic c.515C>T transition in the GPIBA gene (Bolzano mutation) was responsible for macrothrombocytopenia in a few Italian patients. 21933849

2012
dbSNP: rs750315624
rs750315624
GP1BB ; SEPT5-GP1BB
0.010 GeneticVariation BEFREE However, some years ago it was shown that the monoallelic c.515C>T transition in the GPIBA gene (Bolzano mutation) was responsible for macrothrombocytopenia in a few Italian patients. 21933849

2012
dbSNP: rs766503255
rs766503255
ITGA2B
0.010 GeneticVariation BEFREE Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. 21454453

2011
dbSNP: rs143873938
rs143873938
FLNA
0.010 GeneticVariation BEFREE FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia. 20844545

2010