rs786204339
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786204339(-;-) |
Make rs786204339(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 47342910 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs786204339 |
dbSNP (classic) | rs786204339 |
ClinGen | rs786204339 |
ebi | rs786204339 |
HLI | rs786204339 |
Exac | rs786204339 |
Gnomad | rs786204339 |
Varsome | rs786204339 |
LitVar | rs786204339 |
Map | rs786204339 |
PheGenI | rs786204339 |
Biobank | rs786204339 |
1000 genomes | rs786204339 |
hgdp | rs786204339 |
ensembl | rs786204339 |
geneview | rs786204339 |
scholar | rs786204339 |
rs786204339 | |
pharmgkb | rs786204339 |
gwascentral | rs786204339 |
openSNP | rs786204339 |
23andMe | rs786204339 |
SNPshot | rs786204339 |
SNPdbe | rs786204339 |
MSV3d | rs786204339 |
GWAS Ctlg | rs786204339 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204339(-;-) |
Alt | rs786204339(-;-) |
Reference | Rs786204339(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47364461delG |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000168774.2, |