rs730880674
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACT;ACT) | 0 | common in clinvar |
Make rs730880674(-;-) |
Make rs730880674(-;ACT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 47332895 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880674 |
dbSNP (classic) | rs730880674 |
ClinGen | rs730880674 |
ebi | rs730880674 |
HLI | rs730880674 |
Exac | rs730880674 |
Gnomad | rs730880674 |
Varsome | rs730880674 |
LitVar | rs730880674 |
Map | rs730880674 |
PheGenI | rs730880674 |
Biobank | rs730880674 |
1000 genomes | rs730880674 |
hgdp | rs730880674 |
ensembl | rs730880674 |
geneview | rs730880674 |
scholar | rs730880674 |
rs730880674 | |
pharmgkb | rs730880674 |
gwascentral | rs730880674 |
openSNP | rs730880674 |
23andMe | rs730880674 |
SNPshot | rs730880674 |
SNPdbe | rs730880674 |
MSV3d | rs730880674 |
GWAS Ctlg | rs730880674 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880674(-;-) |
Alt | rs730880674(-;-) |
Reference | Rs730880674(ACT;ACT) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47354446_47354448delAGT |
CLNSRC | |
CLNACC | RCV000158402.1, RCV000208115.1, |