rs397516080
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs397516080(-;-) |
Make rs397516080(-;TT) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47346639 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516080 |
dbSNP (classic) | rs397516080 |
ClinGen | rs397516080 |
ebi | rs397516080 |
HLI | rs397516080 |
Exac | rs397516080 |
Gnomad | rs397516080 |
Varsome | rs397516080 |
LitVar | rs397516080 |
Map | rs397516080 |
PheGenI | rs397516080 |
Biobank | rs397516080 |
1000 genomes | rs397516080 |
hgdp | rs397516080 |
ensembl | rs397516080 |
geneview | rs397516080 |
scholar | rs397516080 |
rs397516080 | |
pharmgkb | rs397516080 |
gwascentral | rs397516080 |
openSNP | rs397516080 |
23andMe | rs397516080 |
SNPshot | rs397516080 |
SNPdbe | rs397516080 |
MSV3d | rs397516080 |
GWAS Ctlg | rs397516080 |
Merged from | Rs730880685 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs397516080(TT;TT) |
Significance | Other |
Disease | Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47368190_47368191delAA |
CLNSRC | ClinVar |
CLNACC | RCV000035677.4, RCV000208183.1, |