rs193922377
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922377(A;A) |
Make rs193922377(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47343051 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs193922377 |
dbSNP (classic) | rs193922377 |
ClinGen | rs193922377 |
ebi | rs193922377 |
HLI | rs193922377 |
Exac | rs193922377 |
Gnomad | rs193922377 |
Varsome | rs193922377 |
LitVar | rs193922377 |
Map | rs193922377 |
PheGenI | rs193922377 |
Biobank | rs193922377 |
1000 genomes | rs193922377 |
hgdp | rs193922377 |
ensembl | rs193922377 |
geneview | rs193922377 |
scholar | rs193922377 |
rs193922377 | |
pharmgkb | rs193922377 |
gwascentral | rs193922377 |
openSNP | rs193922377 |
23andMe | rs193922377 |
SNPshot | rs193922377 |
SNPdbe | rs193922377 |
MSV3d | rs193922377 |
GWAS Ctlg | rs193922377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922377(A;A) |
Alt | rs193922377(A;A) |
Reference | Rs193922377(G;G) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy not specified |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not specified |
Reversed | 1 |
HGVS | NC_000011.9:g.47364602C>T |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000030279.4, RCV000035382.6, |
[PMID 18533079] Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
[PMID 20414521] [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].
[PMID 20624503] Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
[PMID 20851114] Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.