rs730880876
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880876(A;A) |
Make rs730880876(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23428599 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs730880876 |
dbSNP (classic) | rs730880876 |
ClinGen | rs730880876 |
ebi | rs730880876 |
HLI | rs730880876 |
Exac | rs730880876 |
Gnomad | rs730880876 |
Varsome | rs730880876 |
LitVar | rs730880876 |
Map | rs730880876 |
PheGenI | rs730880876 |
Biobank | rs730880876 |
1000 genomes | rs730880876 |
hgdp | rs730880876 |
ensembl | rs730880876 |
geneview | rs730880876 |
scholar | rs730880876 |
rs730880876 | |
pharmgkb | rs730880876 |
gwascentral | rs730880876 |
openSNP | rs730880876 |
23andMe | rs730880876 |
SNPshot | rs730880876 |
SNPdbe | rs730880876 |
MSV3d | rs730880876 |
GWAS Ctlg | rs730880876 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880876(A;A) rs730880876(C;C) |
Alt | rs730880876(A;A) rs730880876(C;C) |
Reference | Rs730880876(G;G) |
Significance | Probable-Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 1 not provided |
Variation | info |
Gene | MYH7 |
CLNDBN | Familial hypertrophic cardiomyopathy 1 not provided |
Reversed | 1 |
HGVS | NC_000014.8:g.23897808C>G; NC_000014.8:g.23897808C>T |
CLNSRC | |
CLNACC | RCV000201501.1, RCV000158808.2, |