rs397516040
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CCA) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(CCA;CCA) | 0 | common in clinvar |
Make rs397516040(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47332117 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516040 |
dbSNP (classic) | rs397516040 |
ClinGen | rs397516040 |
ebi | rs397516040 |
HLI | rs397516040 |
Exac | rs397516040 |
Gnomad | rs397516040 |
Varsome | rs397516040 |
LitVar | rs397516040 |
Map | rs397516040 |
PheGenI | rs397516040 |
Biobank | rs397516040 |
1000 genomes | rs397516040 |
hgdp | rs397516040 |
ensembl | rs397516040 |
geneview | rs397516040 |
scholar | rs397516040 |
rs397516040 | |
pharmgkb | rs397516040 |
gwascentral | rs397516040 |
openSNP | rs397516040 |
23andMe | rs397516040 |
SNPshot | rs397516040 |
SNPdbe | rs397516040 |
MSV3d | rs397516040 |
GWAS Ctlg | rs397516040 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397516040(-;-) |
Alt | rs397516040(-;-) |
Reference | Rs397516040(CCA;CCA) |
Significance | Probable-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.47353668_47353670delTGG |
CLNSRC | |
CLNACC | RCV000035616.4, RCV000158408.4, RCV000466712.1, |