rs730880671
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CA) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(CA;CA) | 0 | common in clinvar |
Make rs730880671(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47333221 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880671 |
dbSNP (classic) | rs730880671 |
ClinGen | rs730880671 |
ebi | rs730880671 |
HLI | rs730880671 |
Exac | rs730880671 |
Gnomad | rs730880671 |
Varsome | rs730880671 |
LitVar | rs730880671 |
Map | rs730880671 |
PheGenI | rs730880671 |
Biobank | rs730880671 |
1000 genomes | rs730880671 |
hgdp | rs730880671 |
ensembl | rs730880671 |
geneview | rs730880671 |
scholar | rs730880671 |
rs730880671 | |
pharmgkb | rs730880671 |
gwascentral | rs730880671 |
openSNP | rs730880671 |
23andMe | rs730880671 |
SNPshot | rs730880671 |
SNPdbe | rs730880671 |
MSV3d | rs730880671 |
GWAS Ctlg | rs730880671 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs730880671(-;-) |
Alt | rs730880671(-;-) |
Reference | Rs730880671(CA;CA) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47354772_47354773delTG |
CLNSRC | |
CLNACC | RCV000158398.1, |