rs397516087
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397516087(C;C) |
Make rs397516087(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 23429900 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs397516087 |
dbSNP (classic) | rs397516087 |
ClinGen | rs397516087 |
ebi | rs397516087 |
HLI | rs397516087 |
Exac | rs397516087 |
Gnomad | rs397516087 |
Varsome | rs397516087 |
LitVar | rs397516087 |
Map | rs397516087 |
PheGenI | rs397516087 |
Biobank | rs397516087 |
1000 genomes | rs397516087 |
hgdp | rs397516087 |
ensembl | rs397516087 |
geneview | rs397516087 |
scholar | rs397516087 |
rs397516087 | |
pharmgkb | rs397516087 |
gwascentral | rs397516087 |
openSNP | rs397516087 |
23andMe | rs397516087 |
SNPshot | rs397516087 |
SNPdbe | rs397516087 |
MSV3d | rs397516087 |
GWAS Ctlg | rs397516087 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516087(C;C) |
Alt | rs397516087(C;C) |
Reference | Rs397516087(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 |
Variation | info |
Gene | MYH7 |
CLNDBN | not specified Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 |
Reversed | 1 |
HGVS | NC_000014.8:g.23899109A>G |
CLNSRC | |
CLNACC | RCV000035694.2, RCV000195997.1, RCV000201479.1, |