rs397516047
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs397516047(-;-) |
Make rs397516047(-;GT) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47350087 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516047 |
dbSNP (classic) | rs397516047 |
ClinGen | rs397516047 |
ebi | rs397516047 |
HLI | rs397516047 |
Exac | rs397516047 |
Gnomad | rs397516047 |
Varsome | rs397516047 |
LitVar | rs397516047 |
Map | rs397516047 |
PheGenI | rs397516047 |
Biobank | rs397516047 |
1000 genomes | rs397516047 |
hgdp | rs397516047 |
ensembl | rs397516047 |
geneview | rs397516047 |
scholar | rs397516047 |
rs397516047 | |
pharmgkb | rs397516047 |
gwascentral | rs397516047 |
openSNP | rs397516047 |
23andMe | rs397516047 |
SNPshot | rs397516047 |
SNPdbe | rs397516047 |
MSV3d | rs397516047 |
GWAS Ctlg | rs397516047 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516047(-;-) |
Alt | rs397516047(-;-) |
Reference | Rs397516047(GT;GT) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47371638_47371639delAC |
CLNSRC | ClinVar |
CLNACC | RCV000035624.2, |