rs730880159
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs730880159(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23429031 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs730880159 |
dbSNP (classic) | rs730880159 |
ClinGen | rs730880159 |
ebi | rs730880159 |
HLI | rs730880159 |
Exac | rs730880159 |
Gnomad | rs730880159 |
Varsome | rs730880159 |
LitVar | rs730880159 |
Map | rs730880159 |
PheGenI | rs730880159 |
Biobank | rs730880159 |
1000 genomes | rs730880159 |
hgdp | rs730880159 |
ensembl | rs730880159 |
geneview | rs730880159 |
scholar | rs730880159 |
rs730880159 | |
pharmgkb | rs730880159 |
gwascentral | rs730880159 |
openSNP | rs730880159 |
23andMe | rs730880159 |
SNPshot | rs730880159 |
SNPdbe | rs730880159 |
MSV3d | rs730880159 |
GWAS Ctlg | rs730880159 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs730880159(C;C) rs730880159(G;G) |
Alt | rs730880159(C;C) rs730880159(G;G) |
Reference | Rs730880159(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23898240T>C; NC_000014.8:g.23898240T>G |
CLNSRC | |
CLNACC | RCV000158797.2, RCV000208202.1, RCV000468249.1, RCV000157355.1, |