rs369790992
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs369790992(C;T) |
Make rs369790992(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47338559 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs369790992 |
dbSNP (classic) | rs369790992 |
ClinGen | rs369790992 |
ebi | rs369790992 |
HLI | rs369790992 |
Exac | rs369790992 |
Gnomad | rs369790992 |
Varsome | rs369790992 |
LitVar | rs369790992 |
Map | rs369790992 |
PheGenI | rs369790992 |
Biobank | rs369790992 |
1000 genomes | rs369790992 |
hgdp | rs369790992 |
ensembl | rs369790992 |
geneview | rs369790992 |
scholar | rs369790992 |
rs369790992 | |
pharmgkb | rs369790992 |
gwascentral | rs369790992 |
openSNP | rs369790992 |
23andMe | rs369790992 |
SNPshot | rs369790992 |
SNPdbe | rs369790992 |
MSV3d | rs369790992 |
GWAS Ctlg | rs369790992 |
Max Magnitude | 0 |
[PMID 24111713] Genetics of hypertrophic cardiomyopathy in Norway.
ClinVar | |
---|---|
Risk | rs369790992(T;T) |
Alt | rs369790992(T;T) |
Reference | Rs369790992(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.47360110C>T |
CLNSRC | |
CLNACC | RCV000148680.1, RCV000151099.3, RCV000463200.1, |