rs876657702
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs876657702(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 47346222 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs876657702 |
dbSNP (classic) | rs876657702 |
ClinGen | rs876657702 |
ebi | rs876657702 |
HLI | rs876657702 |
Exac | rs876657702 |
Gnomad | rs876657702 |
Varsome | rs876657702 |
LitVar | rs876657702 |
Map | rs876657702 |
PheGenI | rs876657702 |
Biobank | rs876657702 |
1000 genomes | rs876657702 |
hgdp | rs876657702 |
ensembl | rs876657702 |
geneview | rs876657702 |
scholar | rs876657702 |
rs876657702 | |
pharmgkb | rs876657702 |
gwascentral | rs876657702 |
openSNP | rs876657702 |
23andMe | rs876657702 |
SNPshot | rs876657702 |
SNPdbe | rs876657702 |
MSV3d | rs876657702 |
GWAS Ctlg | rs876657702 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs876657702(T;T) |
Alt | rs876657702(T;T) |
Reference | Rs876657702(G;G) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47367773C>A |
CLNSRC | |
CLNACC | RCV000217183.1, |