rs863224483
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863224483(C;T) |
Make rs863224483(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 47339653 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs863224483 |
dbSNP (classic) | rs863224483 |
ClinGen | rs863224483 |
ebi | rs863224483 |
HLI | rs863224483 |
Exac | rs863224483 |
Gnomad | rs863224483 |
Varsome | rs863224483 |
LitVar | rs863224483 |
Map | rs863224483 |
PheGenI | rs863224483 |
Biobank | rs863224483 |
1000 genomes | rs863224483 |
hgdp | rs863224483 |
ensembl | rs863224483 |
geneview | rs863224483 |
scholar | rs863224483 |
rs863224483 | |
pharmgkb | rs863224483 |
gwascentral | rs863224483 |
openSNP | rs863224483 |
23andMe | rs863224483 |
SNPshot | rs863224483 |
SNPdbe | rs863224483 |
MSV3d | rs863224483 |
GWAS Ctlg | rs863224483 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224483(T;T) |
Alt | rs863224483(T;T) |
Reference | Rs863224483(C;C) |
Significance | Pathogenic |
Disease | Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 |
Reversed | 1 |
HGVS | NC_000011.9:g.47361204G>A |
CLNSRC | |
CLNACC | RCV000200586.1, RCV000201469.1, |