rs869025461
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs869025461(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 47333584 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs869025461 |
dbSNP (classic) | rs869025461 |
ClinGen | rs869025461 |
ebi | rs869025461 |
HLI | rs869025461 |
Exac | rs869025461 |
Gnomad | rs869025461 |
Varsome | rs869025461 |
LitVar | rs869025461 |
Map | rs869025461 |
PheGenI | rs869025461 |
Biobank | rs869025461 |
1000 genomes | rs869025461 |
hgdp | rs869025461 |
ensembl | rs869025461 |
geneview | rs869025461 |
scholar | rs869025461 |
rs869025461 | |
pharmgkb | rs869025461 |
gwascentral | rs869025461 |
openSNP | rs869025461 |
23andMe | rs869025461 |
SNPshot | rs869025461 |
SNPdbe | rs869025461 |
MSV3d | rs869025461 |
GWAS Ctlg | rs869025461 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs869025461(T;T) |
Alt | rs869025461(T;T) |
Reference | Rs869025461(A;A) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47355135T>A |
CLNSRC | |
CLNACC | RCV000208447.1, |