ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907345
rs387907345
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
T 0.800 CausalMutation CLINVAR
dbSNP: rs387907345
rs387907345
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800 GeneticVariation UNIPROT
dbSNP: rs387907346
rs387907346
Entrez Id: 87;161159
Gene Symbol: ACTN1;ACTN1-AS1
ACTN1;ACTN1-AS1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800 GeneticVariation UNIPROT
dbSNP: rs387907346
rs387907346
Entrez Id: 87;161159
Gene Symbol: ACTN1;ACTN1-AS1
ACTN1;ACTN1-AS1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
T 0.800 CausalMutation CLINVAR
dbSNP: rs387907347
rs387907347
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800 GeneticVariation UNIPROT
dbSNP: rs387907347
rs387907347
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
T 0.800 CausalMutation CLINVAR
dbSNP: rs387907348
rs387907348
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800 GeneticVariation UNIPROT
dbSNP: rs387907348
rs387907348
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
T 0.800 CausalMutation CLINVAR
dbSNP: rs387907349
rs387907349
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800 GeneticVariation UNIPROT
dbSNP: rs387907349
rs387907349
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
A 0.800 CausalMutation CLINVAR
dbSNP: rs387907350
rs387907350
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
0.800 GeneticVariation UNIPROT
dbSNP: rs387907350
rs387907350
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
T 0.800 CausalMutation CLINVAR
dbSNP: rs387907348
rs387907348
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C2751260
Disease:
Macrothrombocytopenia
T 0.710 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs387907348
rs387907348
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C2751260
Disease:
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
dbSNP: rs117672662
rs117672662
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C0032181
Disease:
Platelet Count measurement
0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs387907345
rs387907345
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C2751260
Disease:
Macrothrombocytopenia
T 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs387907350
rs387907350
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C2751260
Disease:
Macrothrombocytopenia
T 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs3784138
rs3784138
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C0032181
Disease:
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
dbSNP: rs117672662
rs117672662
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C0032181
Disease:
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
dbSNP: rs117672662
rs117672662
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3828530
Disease:
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
dbSNP: rs117672662
rs117672662
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C0200665
Disease:
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
dbSNP: rs2073307
rs2073307
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C0200665
Disease:
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
dbSNP: rs76745467
rs76745467
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C0338656
Disease:
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
dbSNP: rs1555343284
rs1555343284
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
C 0.700 GeneticVariation CLINVAR
dbSNP: rs387907349
rs387907349
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C2751260
Disease:
Macrothrombocytopenia
A 0.700 GeneticVariation CLINVAR