rs573821685
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs573821685(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47333618 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs573821685 |
dbSNP (classic) | rs573821685 |
ClinGen | rs573821685 |
ebi | rs573821685 |
HLI | rs573821685 |
Exac | rs573821685 |
Gnomad | rs573821685 |
Varsome | rs573821685 |
LitVar | rs573821685 |
Map | rs573821685 |
PheGenI | rs573821685 |
Biobank | rs573821685 |
1000 genomes | rs573821685 |
hgdp | rs573821685 |
ensembl | rs573821685 |
geneview | rs573821685 |
scholar | rs573821685 |
rs573821685 | |
pharmgkb | rs573821685 |
gwascentral | rs573821685 |
openSNP | rs573821685 |
23andMe | rs573821685 |
SNPshot | rs573821685 |
SNPdbe | rs573821685 |
MSV3d | rs573821685 |
GWAS Ctlg | rs573821685 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs573821685(A;A) rs573821685(T;T) |
Alt | rs573821685(A;A) rs573821685(T;T) |
Reference | Rs573821685(G;G) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.47355169G>T |
CLNSRC | |
CLNACC | RCV000151075.2, |