rs730880616
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730880616(C;C) |
Make rs730880616(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47350052 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880616 |
dbSNP (classic) | rs730880616 |
ClinGen | rs730880616 |
ebi | rs730880616 |
HLI | rs730880616 |
Exac | rs730880616 |
Gnomad | rs730880616 |
Varsome | rs730880616 |
LitVar | rs730880616 |
Map | rs730880616 |
PheGenI | rs730880616 |
Biobank | rs730880616 |
1000 genomes | rs730880616 |
hgdp | rs730880616 |
ensembl | rs730880616 |
geneview | rs730880616 |
scholar | rs730880616 |
rs730880616 | |
pharmgkb | rs730880616 |
gwascentral | rs730880616 |
openSNP | rs730880616 |
23andMe | rs730880616 |
SNPshot | rs730880616 |
SNPdbe | rs730880616 |
MSV3d | rs730880616 |
GWAS Ctlg | rs730880616 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880616(C;C) |
Alt | rs730880616(C;C) |
Reference | Rs730880616(T;T) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47371603A>G |
CLNSRC | |
CLNACC | RCV000158282.1, |