rs397516007
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;C) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs397516007(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47333331 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516007 |
dbSNP (classic) | rs397516007 |
ClinGen | rs397516007 |
ebi | rs397516007 |
HLI | rs397516007 |
Exac | rs397516007 |
Gnomad | rs397516007 |
Varsome | rs397516007 |
LitVar | rs397516007 |
Map | rs397516007 |
PheGenI | rs397516007 |
Biobank | rs397516007 |
1000 genomes | rs397516007 |
hgdp | rs397516007 |
ensembl | rs397516007 |
geneview | rs397516007 |
scholar | rs397516007 |
rs397516007 | |
pharmgkb | rs397516007 |
gwascentral | rs397516007 |
openSNP | rs397516007 |
23andMe | rs397516007 |
SNPshot | rs397516007 |
SNPdbe | rs397516007 |
MSV3d | rs397516007 |
GWAS Ctlg | rs397516007 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397516007(C;C) |
Alt | rs397516007(C;C) |
Reference | Rs397516007(-;-) |
Significance | Pathogenic |
Disease | not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype |
Reversed | 1 |
HGVS | NC_000011.9:g.47354883dupG |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000158392.4, RCV000168202.1, RCV000211817.2, RCV000251587.1, |