rs45466197
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs45466197(G;T) |
Make rs45466197(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 201361327 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs45466197 |
dbSNP (classic) | rs45466197 |
ClinGen | rs45466197 |
ebi | rs45466197 |
HLI | rs45466197 |
Exac | rs45466197 |
Gnomad | rs45466197 |
Varsome | rs45466197 |
LitVar | rs45466197 |
Map | rs45466197 |
PheGenI | rs45466197 |
Biobank | rs45466197 |
1000 genomes | rs45466197 |
hgdp | rs45466197 |
ensembl | rs45466197 |
geneview | rs45466197 |
scholar | rs45466197 |
rs45466197 | |
pharmgkb | rs45466197 |
gwascentral | rs45466197 |
openSNP | rs45466197 |
23andMe | rs45466197 |
SNPshot | rs45466197 |
SNPdbe | rs45466197 |
MSV3d | rs45466197 |
GWAS Ctlg | rs45466197 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs45466197(T;T) |
Alt | rs45466197(T;T) |
Reference | Rs45466197(G;G) |
Significance | Other |
Disease | not specified Primary familial hypertrophic cardiomyopathy not provided Left ventricular noncompaction 6 Familial hypertrophic cardiomyopathy 2 |
Variation | info |
Gene | TNNT2 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy not provided Left ventricular noncompaction 6 Familial hypertrophic cardiomyopathy 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.201330455C>A |
CLNSRC | |
CLNACC | RCV000036615.3, RCV000148901.1, RCV000225695.1, RCV000415651.1, RCV000415695.1, |