rs573916965
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(C;C) | 0 | common in clinvar |
Make rs573916965(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47346297 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs573916965 |
dbSNP (classic) | rs573916965 |
ClinGen | rs573916965 |
ebi | rs573916965 |
HLI | rs573916965 |
Exac | rs573916965 |
Gnomad | rs573916965 |
Varsome | rs573916965 |
LitVar | rs573916965 |
Map | rs573916965 |
PheGenI | rs573916965 |
Biobank | rs573916965 |
1000 genomes | rs573916965 |
hgdp | rs573916965 |
ensembl | rs573916965 |
geneview | rs573916965 |
scholar | rs573916965 |
rs573916965 | |
pharmgkb | rs573916965 |
gwascentral | rs573916965 |
openSNP | rs573916965 |
23andMe | rs573916965 |
SNPshot | rs573916965 |
SNPdbe | rs573916965 |
MSV3d | rs573916965 |
GWAS Ctlg | rs573916965 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs573916965(A;A) rs573916965(T;T) |
Alt | rs573916965(A;A) rs573916965(T;T) |
Reference | Rs573916965(C;C) |
Significance | Other |
Disease | Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy Dilated Cardiomyopathy Left ventricular noncompaction cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.47367848C>A; NC_000011.9:g.47367848C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000211794.2, RCV000154555.4, RCV000168764.2, RCV000294264.1, RCV000349011.1, RCV000405438.1, |