rs371564200
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs371564200(C;T) |
Make rs371564200(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 47341207 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs371564200 |
dbSNP (classic) | rs371564200 |
ClinGen | rs371564200 |
ebi | rs371564200 |
HLI | rs371564200 |
Exac | rs371564200 |
Gnomad | rs371564200 |
Varsome | rs371564200 |
LitVar | rs371564200 |
Map | rs371564200 |
PheGenI | rs371564200 |
Biobank | rs371564200 |
1000 genomes | rs371564200 |
hgdp | rs371564200 |
ensembl | rs371564200 |
geneview | rs371564200 |
scholar | rs371564200 |
rs371564200 | |
pharmgkb | rs371564200 |
gwascentral | rs371564200 |
openSNP | rs371564200 |
23andMe | rs371564200 |
SNPshot | rs371564200 |
SNPdbe | rs371564200 |
MSV3d | rs371564200 |
GWAS Ctlg | rs371564200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371564200(G;G) rs371564200(T;T) |
Alt | rs371564200(G;G) rs371564200(T;T) |
Reference | Rs371564200(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Inborn genetic diseases Hypertrophic cardiomyopathy not provided Primary dilated cardiomyopathy Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Inborn genetic diseases Hypertrophic cardiomyopathy not provided Primary dilated cardiomyopathy Primary familial hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.47362758C>G; NC_000011.9:g.47362758C>T |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000035443.3, RCV000210552.1, RCV000477331.1, RCV000482228.1, RCV000035442.3, RCV000143912.1, RCV000148681.1, |