rs533021
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs533021(C;C) |
Make rs533021(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 34788730 |
Gene | ACTC1, LOC101928174 |
is a | snp |
is | mentioned by |
dbSNP | rs533021 |
dbSNP (classic) | rs533021 |
ClinGen | rs533021 |
ebi | rs533021 |
HLI | rs533021 |
Exac | rs533021 |
Gnomad | rs533021 |
Varsome | rs533021 |
LitVar | rs533021 |
Map | rs533021 |
PheGenI | rs533021 |
Biobank | rs533021 |
1000 genomes | rs533021 |
hgdp | rs533021 |
ensembl | rs533021 |
geneview | rs533021 |
scholar | rs533021 |
rs533021 | |
pharmgkb | rs533021 |
gwascentral | rs533021 |
openSNP | rs533021 |
23andMe | rs533021 |
SNPshot | rs533021 |
SNPdbe | rs533021 |
MSV3d | rs533021 |
GWAS Ctlg | rs533021 |
GMAF | 0.4766 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 23570452] Polymorphism of ZBTB17 gene is associated with idiopathic dilated cardiomyopathy: a case control study in a Han Chinese population
[PMID 20592870] 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, |