rs730880717
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AGGAGATCCTGCGTGA) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(AGGAGATCCTGCGTGA;AGGAGATCCTGCGTGA) | 0 | common in clinvar |
Make rs730880717(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47335038 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880717 |
dbSNP (classic) | rs730880717 |
ClinGen | rs730880717 |
ebi | rs730880717 |
HLI | rs730880717 |
Exac | rs730880717 |
Gnomad | rs730880717 |
Varsome | rs730880717 |
LitVar | rs730880717 |
Map | rs730880717 |
PheGenI | rs730880717 |
Biobank | rs730880717 |
1000 genomes | rs730880717 |
hgdp | rs730880717 |
ensembl | rs730880717 |
geneview | rs730880717 |
scholar | rs730880717 |
rs730880717 | |
pharmgkb | rs730880717 |
gwascentral | rs730880717 |
openSNP | rs730880717 |
23andMe | rs730880717 |
SNPshot | rs730880717 |
SNPdbe | rs730880717 |
MSV3d | rs730880717 |
GWAS Ctlg | rs730880717 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs730880717(-;-) |
Alt | rs730880717(-;-) |
Reference | Rs730880717(AGGAGATCCTGCGTGA;AGGAGATCCTGCGTGA) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47356589_47356604del16 |
CLNSRC | |
CLNACC | RCV000158481.1, |