rs397516059
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs397516059(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47349876 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516059 |
dbSNP (classic) | rs397516059 |
ClinGen | rs397516059 |
ebi | rs397516059 |
HLI | rs397516059 |
Exac | rs397516059 |
Gnomad | rs397516059 |
Varsome | rs397516059 |
LitVar | rs397516059 |
Map | rs397516059 |
PheGenI | rs397516059 |
Biobank | rs397516059 |
1000 genomes | rs397516059 |
hgdp | rs397516059 |
ensembl | rs397516059 |
geneview | rs397516059 |
scholar | rs397516059 |
rs397516059 | |
pharmgkb | rs397516059 |
gwascentral | rs397516059 |
openSNP | rs397516059 |
23andMe | rs397516059 |
SNPshot | rs397516059 |
SNPdbe | rs397516059 |
MSV3d | rs397516059 |
GWAS Ctlg | rs397516059 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397516059(T;T) |
Alt | rs397516059(T;T) |
Reference | Rs397516059(-;-) |
Significance | Other |
Disease | Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47371428dupA |
CLNSRC | ClinVar |
CLNACC | RCV000035646.3, RCV000223779.2, RCV000225364.1, RCV000467369.1, |