ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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