rs17028450
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs17028450(C;T) |
Make rs17028450(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 98534325 |
Gene | TMPO |
is a | snp |
is | mentioned by |
dbSNP | rs17028450 |
dbSNP (classic) | rs17028450 |
ClinGen | rs17028450 |
ebi | rs17028450 |
HLI | rs17028450 |
Exac | rs17028450 |
Gnomad | rs17028450 |
Varsome | rs17028450 |
LitVar | rs17028450 |
Map | rs17028450 |
PheGenI | rs17028450 |
Biobank | rs17028450 |
1000 genomes | rs17028450 |
hgdp | rs17028450 |
ensembl | rs17028450 |
geneview | rs17028450 |
scholar | rs17028450 |
rs17028450 | |
pharmgkb | rs17028450 |
gwascentral | rs17028450 |
openSNP | rs17028450 |
23andMe | rs17028450 |
SNPshot | rs17028450 |
SNPdbe | rs17028450 |
MSV3d | rs17028450 |
GWAS Ctlg | rs17028450 |
GMAF | 0.01331 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs17028450(T;T) |
Alt | rs17028450(T;T) |
Reference | Rs17028450(C;C) |
Significance | Probable-non-pathogenic |
Disease | Dilated cardiomyopathy 1T not specified Dilated cardiomyopathy Loeys-Dietz syndrome 2 Cardiovascular phenotype Dilated Cardiomyopathy |
Variation | info |
Gene | TMPO |
CLNDBN | Dilated cardiomyopathy 1T not specified Dilated cardiomyopathy Loeys-Dietz syndrome 2 Cardiovascular phenotype Dilated Cardiomyopathy, Dominant |
Reversed | 0 |
HGVS | NC_000012.11:g.98928103C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013544.25, RCV000037751.4, RCV000172599.1, RCV000231421.2, RCV000254155.1, RCV000403830.1, |