rs397516127
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397516127(C;T) |
Make rs397516127(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23426834 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs397516127 |
dbSNP (classic) | rs397516127 |
ClinGen | rs397516127 |
ebi | rs397516127 |
HLI | rs397516127 |
Exac | rs397516127 |
Gnomad | rs397516127 |
Varsome | rs397516127 |
LitVar | rs397516127 |
Map | rs397516127 |
PheGenI | rs397516127 |
Biobank | rs397516127 |
1000 genomes | rs397516127 |
hgdp | rs397516127 |
ensembl | rs397516127 |
geneview | rs397516127 |
scholar | rs397516127 |
rs397516127 | |
pharmgkb | rs397516127 |
gwascentral | rs397516127 |
openSNP | rs397516127 |
23andMe | rs397516127 |
SNPshot | rs397516127 |
SNPdbe | rs397516127 |
MSV3d | rs397516127 |
GWAS Ctlg | rs397516127 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516127(T;T) |
Alt | rs397516127(T;T) |
Reference | Rs397516127(C;C) |
Significance | Other |
Disease | Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23896043G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000157358.4, RCV000158821.3, RCV000459608.1, |