rs367546859
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs367546859(C;T) |
Make rs367546859(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23420993 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs367546859 |
dbSNP (classic) | rs367546859 |
ClinGen | rs367546859 |
ebi | rs367546859 |
HLI | rs367546859 |
Exac | rs367546859 |
Gnomad | rs367546859 |
Varsome | rs367546859 |
LitVar | rs367546859 |
Map | rs367546859 |
PheGenI | rs367546859 |
Biobank | rs367546859 |
1000 genomes | rs367546859 |
hgdp | rs367546859 |
ensembl | rs367546859 |
geneview | rs367546859 |
scholar | rs367546859 |
rs367546859 | |
pharmgkb | rs367546859 |
gwascentral | rs367546859 |
openSNP | rs367546859 |
23andMe | rs367546859 |
SNPshot | rs367546859 |
SNPdbe | rs367546859 |
MSV3d | rs367546859 |
GWAS Ctlg | rs367546859 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367546859(T;T) |
Alt | rs367546859(T;T) |
Reference | Rs367546859(C;C) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype not specified |
Variation | info |
Gene | MYH7 |
CLNDBN | Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype not specified |
Reversed | 0 |
HGVS | NC_000014.8:g.23890202C>T |
CLNSRC | |
CLNACC | RCV000148706.1, RCV000250091.1, RCV000455124.1, |