rs397516029
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;C) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs397516029(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47332568 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516029 |
dbSNP (classic) | rs397516029 |
ClinGen | rs397516029 |
ebi | rs397516029 |
HLI | rs397516029 |
Exac | rs397516029 |
Gnomad | rs397516029 |
Varsome | rs397516029 |
LitVar | rs397516029 |
Map | rs397516029 |
PheGenI | rs397516029 |
Biobank | rs397516029 |
1000 genomes | rs397516029 |
hgdp | rs397516029 |
ensembl | rs397516029 |
geneview | rs397516029 |
scholar | rs397516029 |
rs397516029 | |
pharmgkb | rs397516029 |
gwascentral | rs397516029 |
openSNP | rs397516029 |
23andMe | rs397516029 |
SNPshot | rs397516029 |
SNPdbe | rs397516029 |
MSV3d | rs397516029 |
GWAS Ctlg | rs397516029 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397516029(C;C) |
Alt | rs397516029(C;C) |
Reference | Rs397516029(-;-) |
Significance | Other |
Disease | Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47354120dupG |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000035601.7, RCV000211827.1, |