rs397516155
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AAG) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(AAG;AAG) | 0 | common in clinvar |
Make rs397516155(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 23424907 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs397516155 |
dbSNP (classic) | rs397516155 |
ClinGen | rs397516155 |
ebi | rs397516155 |
HLI | rs397516155 |
Exac | rs397516155 |
Gnomad | rs397516155 |
Varsome | rs397516155 |
LitVar | rs397516155 |
Map | rs397516155 |
PheGenI | rs397516155 |
Biobank | rs397516155 |
1000 genomes | rs397516155 |
hgdp | rs397516155 |
ensembl | rs397516155 |
geneview | rs397516155 |
scholar | rs397516155 |
rs397516155 | |
pharmgkb | rs397516155 |
gwascentral | rs397516155 |
openSNP | rs397516155 |
23andMe | rs397516155 |
SNPshot | rs397516155 |
SNPdbe | rs397516155 |
MSV3d | rs397516155 |
GWAS Ctlg | rs397516155 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397516155(-;-) |
Alt | rs397516155(-;-) |
Reference | Rs397516155(AAG;AAG) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 not provided Cardiovascular phenotype |
Variation | info |
Gene | MYH7 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 not provided Cardiovascular phenotype |
Reversed | 1 |
HGVS | NC_000014.8:g.23894116_23894118delCTT |
CLNSRC | ClinVar |
CLNACC | RCV000035802.2, RCV000143922.2, RCV000168354.1, RCV000201461.1, RCV000223913.1, RCV000248308.1, |