rs397515965
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(G;G) | 0 | common in clinvar |
Make rs397515965(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47337539 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397515965 |
dbSNP (classic) | rs397515965 |
ClinGen | rs397515965 |
ebi | rs397515965 |
HLI | rs397515965 |
Exac | rs397515965 |
Gnomad | rs397515965 |
Varsome | rs397515965 |
LitVar | rs397515965 |
Map | rs397515965 |
PheGenI | rs397515965 |
Biobank | rs397515965 |
1000 genomes | rs397515965 |
hgdp | rs397515965 |
ensembl | rs397515965 |
geneview | rs397515965 |
scholar | rs397515965 |
rs397515965 | |
pharmgkb | rs397515965 |
gwascentral | rs397515965 |
openSNP | rs397515965 |
23andMe | rs397515965 |
SNPshot | rs397515965 |
SNPdbe | rs397515965 |
MSV3d | rs397515965 |
GWAS Ctlg | rs397515965 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397515965(A;A) |
Alt | rs397515965(A;A) |
Reference | Rs397515965(G;G) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47359090C>T |
CLNSRC | ClinVar |
CLNACC | RCV000035490.3, RCV000158150.4, RCV000461443.1, |