rs869025467
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs869025467(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 47341001 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs869025467 |
dbSNP (classic) | rs869025467 |
ClinGen | rs869025467 |
ebi | rs869025467 |
HLI | rs869025467 |
Exac | rs869025467 |
Gnomad | rs869025467 |
Varsome | rs869025467 |
LitVar | rs869025467 |
Map | rs869025467 |
PheGenI | rs869025467 |
Biobank | rs869025467 |
1000 genomes | rs869025467 |
hgdp | rs869025467 |
ensembl | rs869025467 |
geneview | rs869025467 |
scholar | rs869025467 |
rs869025467 | |
pharmgkb | rs869025467 |
gwascentral | rs869025467 |
openSNP | rs869025467 |
23andMe | rs869025467 |
SNPshot | rs869025467 |
SNPdbe | rs869025467 |
MSV3d | rs869025467 |
GWAS Ctlg | rs869025467 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs869025467(C;C) |
Alt | rs869025467(C;C) |
Reference | Rs869025467(T;T) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47362552A>G |
CLNSRC | |
CLNACC | RCV000208230.1, |