rs730880341
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730880341(-;T) |
Make rs730880341(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47337708 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880341 |
dbSNP (classic) | rs730880341 |
ClinGen | rs730880341 |
ebi | rs730880341 |
HLI | rs730880341 |
Exac | rs730880341 |
Gnomad | rs730880341 |
Varsome | rs730880341 |
LitVar | rs730880341 |
Map | rs730880341 |
PheGenI | rs730880341 |
Biobank | rs730880341 |
1000 genomes | rs730880341 |
hgdp | rs730880341 |
ensembl | rs730880341 |
geneview | rs730880341 |
scholar | rs730880341 |
rs730880341 | |
pharmgkb | rs730880341 |
gwascentral | rs730880341 |
openSNP | rs730880341 |
23andMe | rs730880341 |
SNPshot | rs730880341 |
SNPdbe | rs730880341 |
MSV3d | rs730880341 |
GWAS Ctlg | rs730880341 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880341(T;T) |
Alt | rs730880341(T;T) |
Reference | Rs730880341(-;-) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47359260dupA |
CLNSRC | |
CLNACC | RCV000154500.3, RCV000211806.1, RCV000234262.1, |