rs730880712
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;CACT) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs730880712(CACT;CACT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47342621 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880712 |
dbSNP (classic) | rs730880712 |
ClinGen | rs730880712 |
ebi | rs730880712 |
HLI | rs730880712 |
Exac | rs730880712 |
Gnomad | rs730880712 |
Varsome | rs730880712 |
LitVar | rs730880712 |
Map | rs730880712 |
PheGenI | rs730880712 |
Biobank | rs730880712 |
1000 genomes | rs730880712 |
hgdp | rs730880712 |
ensembl | rs730880712 |
geneview | rs730880712 |
scholar | rs730880712 |
rs730880712 | |
pharmgkb | rs730880712 |
gwascentral | rs730880712 |
openSNP | rs730880712 |
23andMe | rs730880712 |
SNPshot | rs730880712 |
SNPdbe | rs730880712 |
MSV3d | rs730880712 |
GWAS Ctlg | rs730880712 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs730880712(CACT;CACT) |
Alt | rs730880712(CACT;CACT) |
Reference | Rs730880712(-;-) |
Significance | Other |
Disease | not provided |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000011.9:g.47364173_47364176dupAGTG |
CLNSRC | |
CLNACC | RCV000223877.2, |