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: rs1555343284
rs1555343284
Entrez Id: 87
Gene Symbol: ACTN1
ACTN1
CUI: C3554663
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 15
C 0.700 GeneticVariation CLINVAR