rs730880336
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;CGGCA) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs730880336(CGGCA;CGGCA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47346254 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880336 |
dbSNP (classic) | rs730880336 |
ClinGen | rs730880336 |
ebi | rs730880336 |
HLI | rs730880336 |
Exac | rs730880336 |
Gnomad | rs730880336 |
Varsome | rs730880336 |
LitVar | rs730880336 |
Map | rs730880336 |
PheGenI | rs730880336 |
Biobank | rs730880336 |
1000 genomes | rs730880336 |
hgdp | rs730880336 |
ensembl | rs730880336 |
geneview | rs730880336 |
scholar | rs730880336 |
rs730880336 | |
pharmgkb | rs730880336 |
gwascentral | rs730880336 |
openSNP | rs730880336 |
23andMe | rs730880336 |
SNPshot | rs730880336 |
SNPdbe | rs730880336 |
MSV3d | rs730880336 |
GWAS Ctlg | rs730880336 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs730880336(CGGCA;CGGCA) |
Alt | rs730880336(CGGCA;CGGCA) |
Reference | Rs730880336(-;-) |
Significance | Pathogenic |
Disease | Cardiomyopathy Primary familial hypertrophic cardiomyopathy not provided |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Cardiomyopathy Primary familial hypertrophic cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000011.9:g.47367806_47367810dupTGCCG |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000158423.1, RCV000211787.1, RCV000483113.1, |