rs730880543
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880543(A;A) |
Make rs730880543(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 47342731 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs730880543 |
dbSNP (classic) | rs730880543 |
ClinGen | rs730880543 |
ebi | rs730880543 |
HLI | rs730880543 |
Exac | rs730880543 |
Gnomad | rs730880543 |
Varsome | rs730880543 |
LitVar | rs730880543 |
Map | rs730880543 |
PheGenI | rs730880543 |
Biobank | rs730880543 |
1000 genomes | rs730880543 |
hgdp | rs730880543 |
ensembl | rs730880543 |
geneview | rs730880543 |
scholar | rs730880543 |
rs730880543 | |
pharmgkb | rs730880543 |
gwascentral | rs730880543 |
openSNP | rs730880543 |
23andMe | rs730880543 |
SNPshot | rs730880543 |
SNPdbe | rs730880543 |
MSV3d | rs730880543 |
GWAS Ctlg | rs730880543 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880543(A;A) |
Alt | rs730880543(A;A) |
Reference | Rs730880543(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Cardiovascular phenotype not specified Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not provided Cardiovascular phenotype not specified Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47364282C>T |
CLNSRC | |
CLNACC | RCV000158092.2, RCV000245534.1, RCV000454557.1, RCV000467731.1, |