rs1370154
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1370154(A;A) |
Make rs1370154(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 34790024 |
Gene | ACTC1, LOC101928174 |
is a | snp |
is | mentioned by |
dbSNP | rs1370154 |
dbSNP (classic) | rs1370154 |
ClinGen | rs1370154 |
ebi | rs1370154 |
HLI | rs1370154 |
Exac | rs1370154 |
Gnomad | rs1370154 |
Varsome | rs1370154 |
LitVar | rs1370154 |
Map | rs1370154 |
PheGenI | rs1370154 |
Biobank | rs1370154 |
1000 genomes | rs1370154 |
hgdp | rs1370154 |
ensembl | rs1370154 |
geneview | rs1370154 |
scholar | rs1370154 |
rs1370154 | |
pharmgkb | rs1370154 |
gwascentral | rs1370154 |
openSNP | rs1370154 |
23andMe | rs1370154 |
SNPshot | rs1370154 |
SNPdbe | rs1370154 |
MSV3d | rs1370154 |
GWAS Ctlg | rs1370154 |
GMAF | 0.2778 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 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 | rs1370154(A;A) rs1370154(C;C) |
Alt | rs1370154(A;A) rs1370154(C;C) |
Reference | Rs1370154(G;G) |
Significance | Probable-non-pathogenic |
Disease | Familial restrictive cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy Left ventricular noncompaction cardiomyopathy Atrial septal defect |
Variation | info |
Gene | ACTC1 LOC101928174 RP11-814P5.1 |
CLNDBN | Familial restrictive cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Atrial septal defect |
Reversed | 1 |
HGVS | NC_000015.9:g.35082225C>T |
CLNSRC | |
CLNACC | RCV000289854.1, RCV000343610.1, RCV000347190.1, RCV000381837.1, RCV000392624.1, |