rs267607594
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.2 | Dilated cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs267607594(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156130745 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs267607594 |
dbSNP (classic) | rs267607594 |
ClinGen | rs267607594 |
ebi | rs267607594 |
HLI | rs267607594 |
Exac | rs267607594 |
Gnomad | rs267607594 |
Varsome | rs267607594 |
LitVar | rs267607594 |
Map | rs267607594 |
PheGenI | rs267607594 |
Biobank | rs267607594 |
1000 genomes | rs267607594 |
hgdp | rs267607594 |
ensembl | rs267607594 |
geneview | rs267607594 |
scholar | rs267607594 |
rs267607594 | |
pharmgkb | rs267607594 |
gwascentral | rs267607594 |
openSNP | rs267607594 |
23andMe | rs267607594 |
SNPshot | rs267607594 |
SNPdbe | rs267607594 |
MSV3d | rs267607594 |
GWAS Ctlg | rs267607594 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs267607594(C;C) |
Alt | rs267607594(C;C) |
Reference | Rs267607594(T;T) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Primary dilated cardiomyopathy not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156100536T>C |
CLNSRC | ClinVar Epithelial Biology |
CLNACC | RCV000041352.2, RCV000057410.1, |