rs786204324
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs786204324(-;-) |
Make rs786204324(-;AG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 47351351 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs786204324 |
dbSNP (classic) | rs786204324 |
ClinGen | rs786204324 |
ebi | rs786204324 |
HLI | rs786204324 |
Exac | rs786204324 |
Gnomad | rs786204324 |
Varsome | rs786204324 |
LitVar | rs786204324 |
Map | rs786204324 |
PheGenI | rs786204324 |
Biobank | rs786204324 |
1000 genomes | rs786204324 |
hgdp | rs786204324 |
ensembl | rs786204324 |
geneview | rs786204324 |
scholar | rs786204324 |
rs786204324 | |
pharmgkb | rs786204324 |
gwascentral | rs786204324 |
openSNP | rs786204324 |
23andMe | rs786204324 |
SNPshot | rs786204324 |
SNPdbe | rs786204324 |
MSV3d | rs786204324 |
GWAS Ctlg | rs786204324 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204324(-;-) |
Alt | rs786204324(-;-) |
Reference | Rs786204324(AG;AG) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47372902_47372903delCT |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000168738.2, |