rs730880744
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730880744(C;C) |
Make rs730880744(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23424969 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs730880744 |
dbSNP (classic) | rs730880744 |
ClinGen | rs730880744 |
ebi | rs730880744 |
HLI | rs730880744 |
Exac | rs730880744 |
Gnomad | rs730880744 |
Varsome | rs730880744 |
LitVar | rs730880744 |
Map | rs730880744 |
PheGenI | rs730880744 |
Biobank | rs730880744 |
1000 genomes | rs730880744 |
hgdp | rs730880744 |
ensembl | rs730880744 |
geneview | rs730880744 |
scholar | rs730880744 |
rs730880744 | |
pharmgkb | rs730880744 |
gwascentral | rs730880744 |
openSNP | rs730880744 |
23andMe | rs730880744 |
SNPshot | rs730880744 |
SNPdbe | rs730880744 |
MSV3d | rs730880744 |
GWAS Ctlg | rs730880744 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880744(C;C) |
Alt | rs730880744(C;C) |
Reference | Rs730880744(T;T) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | Cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23894178A>G |
CLNSRC | |
CLNACC | RCV000158541.1, |