rs863225272
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs863225272(-;-) |
Make rs863225272(-;CT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 47332173 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs863225272 |
dbSNP (classic) | rs863225272 |
ClinGen | rs863225272 |
ebi | rs863225272 |
HLI | rs863225272 |
Exac | rs863225272 |
Gnomad | rs863225272 |
Varsome | rs863225272 |
LitVar | rs863225272 |
Map | rs863225272 |
PheGenI | rs863225272 |
Biobank | rs863225272 |
1000 genomes | rs863225272 |
hgdp | rs863225272 |
ensembl | rs863225272 |
geneview | rs863225272 |
scholar | rs863225272 |
rs863225272 | |
pharmgkb | rs863225272 |
gwascentral | rs863225272 |
openSNP | rs863225272 |
23andMe | rs863225272 |
SNPshot | rs863225272 |
SNPdbe | rs863225272 |
MSV3d | rs863225272 |
GWAS Ctlg | rs863225272 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225272(-;-) |
Alt | rs863225272(-;-) |
Reference | Rs863225272(CT;CT) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 1 |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Familial hypertrophic cardiomyopathy 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.47353724_47353725delAG |
CLNSRC | |
CLNACC | RCV000201872.1, |