rs730880723
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs730880723(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47346212 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880723 |
dbSNP (classic) | rs730880723 |
ClinGen | rs730880723 |
ebi | rs730880723 |
HLI | rs730880723 |
Exac | rs730880723 |
Gnomad | rs730880723 |
Varsome | rs730880723 |
LitVar | rs730880723 |
Map | rs730880723 |
PheGenI | rs730880723 |
Biobank | rs730880723 |
1000 genomes | rs730880723 |
hgdp | rs730880723 |
ensembl | rs730880723 |
geneview | rs730880723 |
scholar | rs730880723 |
rs730880723 | |
pharmgkb | rs730880723 |
gwascentral | rs730880723 |
openSNP | rs730880723 |
23andMe | rs730880723 |
SNPshot | rs730880723 |
SNPdbe | rs730880723 |
MSV3d | rs730880723 |
GWAS Ctlg | rs730880723 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs730880723(A;A) |
Alt | rs730880723(A;A) |
Reference | Rs730880723(-;-) |
Significance | Other |
Disease | not provided Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not provided Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47367764dupT |
CLNSRC | |
CLNACC | RCV000223853.2, RCV000456333.1, |