rs397516353
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs397516353(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 55154109 |
Gene | TNNI3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516353 |
dbSNP (classic) | rs397516353 |
ClinGen | rs397516353 |
ebi | rs397516353 |
HLI | rs397516353 |
Exac | rs397516353 |
Gnomad | rs397516353 |
Varsome | rs397516353 |
LitVar | rs397516353 |
Map | rs397516353 |
PheGenI | rs397516353 |
Biobank | rs397516353 |
1000 genomes | rs397516353 |
hgdp | rs397516353 |
ensembl | rs397516353 |
geneview | rs397516353 |
scholar | rs397516353 |
rs397516353 | |
pharmgkb | rs397516353 |
gwascentral | rs397516353 |
openSNP | rs397516353 |
23andMe | rs397516353 |
SNPshot | rs397516353 |
SNPdbe | rs397516353 |
MSV3d | rs397516353 |
GWAS Ctlg | rs397516353 |
Max Magnitude | 6.2 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].
ClinVar | |
---|---|
Risk | rs397516353(T;T) |
Alt | rs397516353(T;T) |
Reference | Rs397516353(C;C) |
Significance | Pathogenic |
Disease | not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Variation | info |
Gene | TNNI3 |
CLNDBN | not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000019.9:g.55665477G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000159227.2, RCV000211863.1, RCV000465603.1, |