rs786204327
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786204327(-;GC) |
Make rs786204327(GC;GC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 47349885 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs786204327 |
dbSNP (classic) | rs786204327 |
ClinGen | rs786204327 |
ebi | rs786204327 |
HLI | rs786204327 |
Exac | rs786204327 |
Gnomad | rs786204327 |
Varsome | rs786204327 |
LitVar | rs786204327 |
Map | rs786204327 |
PheGenI | rs786204327 |
Biobank | rs786204327 |
1000 genomes | rs786204327 |
hgdp | rs786204327 |
ensembl | rs786204327 |
geneview | rs786204327 |
scholar | rs786204327 |
rs786204327 | |
pharmgkb | rs786204327 |
gwascentral | rs786204327 |
openSNP | rs786204327 |
23andMe | rs786204327 |
SNPshot | rs786204327 |
SNPdbe | rs786204327 |
MSV3d | rs786204327 |
GWAS Ctlg | rs786204327 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204327(GC;GC) |
Alt | rs786204327(GC;GC) |
Reference | Rs786204327(-;-) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47371437_47371438dupGC |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000168748.2, |