rs387907345
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
BLEEDING DISORDER, PLATELET-TYPE, 15
T
0.800
CausalMutation
CLINVAR
rs387907345
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800
GeneticVariation
UNIPROT
rs387907346
ACTN1;ACTN1-AS1
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800
GeneticVariation
UNIPROT
rs387907346
ACTN1;ACTN1-AS1
BLEEDING DISORDER, PLATELET-TYPE, 15
T
0.800
CausalMutation
CLINVAR
rs387907347
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800
GeneticVariation
UNIPROT
rs387907347
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
BLEEDING DISORDER, PLATELET-TYPE, 15
T
0.800
CausalMutation
CLINVAR
rs387907348
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800
GeneticVariation
UNIPROT
rs387907348
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
BLEEDING DISORDER, PLATELET-TYPE, 15
T
0.800
CausalMutation
CLINVAR
rs387907349
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800
GeneticVariation
UNIPROT
rs387907349
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
BLEEDING DISORDER, PLATELET-TYPE, 15
A
0.800
CausalMutation
CLINVAR
rs387907350
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800
GeneticVariation
UNIPROT
rs387907350
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
BLEEDING DISORDER, PLATELET-TYPE, 15
T
0.800
CausalMutation
CLINVAR
rs387907348
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Macrothrombocytopenia
T
0.710
CausalMutation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
rs387907348
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Macrothrombocytopenia
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
rs117672662
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Platelet Count measurement
0.700
GeneticVariation
GWASCAT
Genetic analyses of diverse populations improves discovery for complex traits.
31217584
2019
rs387907345
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Macrothrombocytopenia
T
0.700
GeneticVariation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
rs387907350
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Macrothrombocytopenia
T
0.700
CausalMutation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
rs3784138
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Platelet Count measurement
0.700
GeneticVariation
GWASCAT
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
29403010
2018
rs117672662
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Platelet Count measurement
T
0.700
GeneticVariation
GWASCAT
Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.
26805783
2016
rs117672662
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Platelet Component Distribution Width Measurement
C
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs117672662
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Platelet mean volume determination (procedure)
C
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs2073307
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Platelet mean volume determination (procedure)
T
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs76745467
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Impaired cognition
C
0.700
GeneticVariation
GWASCAT
Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.
26252872
2015
rs1555343284
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
BLEEDING DISORDER, PLATELET-TYPE, 15
C
0.700
GeneticVariation
CLINVAR
rs387907349
×
Entrez Id:
87
Gene Symbol:
ACTN1
ACTN1
Macrothrombocytopenia
A
0.700
GeneticVariation
CLINVAR