rs730880643
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAC;AAC) | 0 | common in clinvar |
Make rs730880643(-;-) |
Make rs730880643(-;AAC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47342657 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880643 |
dbSNP (classic) | rs730880643 |
ClinGen | rs730880643 |
ebi | rs730880643 |
HLI | rs730880643 |
Exac | rs730880643 |
Gnomad | rs730880643 |
Varsome | rs730880643 |
LitVar | rs730880643 |
Map | rs730880643 |
PheGenI | rs730880643 |
Biobank | rs730880643 |
1000 genomes | rs730880643 |
hgdp | rs730880643 |
ensembl | rs730880643 |
geneview | rs730880643 |
scholar | rs730880643 |
rs730880643 | |
pharmgkb | rs730880643 |
gwascentral | rs730880643 |
openSNP | rs730880643 |
23andMe | rs730880643 |
SNPshot | rs730880643 |
SNPdbe | rs730880643 |
MSV3d | rs730880643 |
GWAS Ctlg | rs730880643 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880643(-;-) |
Alt | rs730880643(-;-) |
Reference | Rs730880643(AAC;AAC) |
Significance | Probable-Pathogenic |
Disease | not specified Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47364208_47364210delGTT |
CLNSRC | |
CLNACC | RCV000158347.3, RCV000456611.1, |