rs864622224
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(G;G) | 0 | common in clinvar |
Make rs864622224(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 47351369 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs864622224 |
dbSNP (classic) | rs864622224 |
ClinGen | rs864622224 |
ebi | rs864622224 |
HLI | rs864622224 |
Exac | rs864622224 |
Gnomad | rs864622224 |
Varsome | rs864622224 |
LitVar | rs864622224 |
Map | rs864622224 |
PheGenI | rs864622224 |
Biobank | rs864622224 |
1000 genomes | rs864622224 |
hgdp | rs864622224 |
ensembl | rs864622224 |
geneview | rs864622224 |
scholar | rs864622224 |
rs864622224 | |
pharmgkb | rs864622224 |
gwascentral | rs864622224 |
openSNP | rs864622224 |
23andMe | rs864622224 |
SNPshot | rs864622224 |
SNPdbe | rs864622224 |
MSV3d | rs864622224 |
GWAS Ctlg | rs864622224 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs864622224(-;-) |
Alt | rs864622224(-;-) |
Reference | Rs864622224(G;G) |
Significance | Pathogenic |
Disease | Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47372920delC |
CLNSRC | |
CLNACC | RCV000204099.1, |