rs397516063
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397516063(C;T) |
Make rs397516063(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47349785 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516063 |
dbSNP (classic) | rs397516063 |
ClinGen | rs397516063 |
ebi | rs397516063 |
HLI | rs397516063 |
Exac | rs397516063 |
Gnomad | rs397516063 |
Varsome | rs397516063 |
LitVar | rs397516063 |
Map | rs397516063 |
PheGenI | rs397516063 |
Biobank | rs397516063 |
1000 genomes | rs397516063 |
hgdp | rs397516063 |
ensembl | rs397516063 |
geneview | rs397516063 |
scholar | rs397516063 |
rs397516063 | |
pharmgkb | rs397516063 |
gwascentral | rs397516063 |
openSNP | rs397516063 |
23andMe | rs397516063 |
SNPshot | rs397516063 |
SNPdbe | rs397516063 |
MSV3d | rs397516063 |
GWAS Ctlg | rs397516063 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516063(T;T) |
Alt | rs397516063(T;T) |
Reference | Rs397516063(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Cardiovascular phenotype Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Cardiovascular phenotype Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47371336G>A |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000035653.4, RCV000245767.1, RCV000463175.1, |