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rs533021

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs533021(C;C)
Make rs533021(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position34788730
GeneACTC1, LOC101928174
is asnp
is mentioned by
dbSNPrs533021
dbSNP (classic)rs533021
ClinGenrs533021
ebirs533021
HLIrs533021
Exacrs533021
Gnomadrs533021
Varsomers533021
LitVarrs533021
Maprs533021
PheGenIrs533021
Biobankrs533021
1000 genomesrs533021
hgdprs533021
ensemblrs533021
geneviewrs533021
scholarrs533021
googlers533021
pharmgkbrs533021
gwascentralrs533021
openSNPrs533021
23andMers533021
SNPshotrs533021
SNPdbers533021
MSV3drs533021
GWAS Ctlgrs533021
GMAF0.4766
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 23570452OA-icon.png] Polymorphism of ZBTB17 gene is associated with idiopathic dilated cardiomyopathy: a case control study in a Han Chinese population


[PMID 20592870OA-icon.png] Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.


ClinVar
Risk rs533021(C;C)
Alt rs533021(C;C)
Reference Rs533021(T;T)
Significance Probable-non-pathogenic
Disease Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy Atrial septal defect Hypertrophic cardiomyopathy Familial restrictive cardiomyopathy
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Atrial septal defect Hypertrophic cardiomyopathy Familial restrictive cardiomyopathy
Reversed 0
HGVS NC_000015.9:g.35080931T>C
CLNSRC
CLNACC RCV000284649.1, RCV000309165.1, RCV000339715.1, RCV000394697.1, RCV000406244.1,