rs397516349
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Familial hypertrophic cardiomyopathy (possible) |
(G;G) | 0 | common in clinvar |
Make rs397516349(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 55154145 |
Gene | TNNI3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516349 |
dbSNP (classic) | rs397516349 |
ClinGen | rs397516349 |
ebi | rs397516349 |
HLI | rs397516349 |
Exac | rs397516349 |
Gnomad | rs397516349 |
Varsome | rs397516349 |
LitVar | rs397516349 |
Map | rs397516349 |
PheGenI | rs397516349 |
Biobank | rs397516349 |
1000 genomes | rs397516349 |
hgdp | rs397516349 |
ensembl | rs397516349 |
geneview | rs397516349 |
scholar | rs397516349 |
rs397516349 | |
pharmgkb | rs397516349 |
gwascentral | rs397516349 |
openSNP | rs397516349 |
23andMe | rs397516349 |
SNPshot | rs397516349 |
SNPdbe | rs397516349 |
MSV3d | rs397516349 |
GWAS Ctlg | rs397516349 |
Max Magnitude | 6 |
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 | rs397516349(A;A) |
Alt | rs397516349(A;A) |
Reference | Rs397516349(G;G) |
Significance | Other |
Disease | not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | TNNI3 |
CLNDBN | not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000019.9:g.55665513C>T |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000159223.4, RCV000200141.3, RCV000208273.1, |