rs397516351
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AAG) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(AAG;AAG) | 0 | common in clinvar |
Make rs397516351(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 55154045 |
Gene | TNNI3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516351 |
dbSNP (classic) | rs397516351 |
ClinGen | rs397516351 |
ebi | rs397516351 |
HLI | rs397516351 |
Exac | rs397516351 |
Gnomad | rs397516351 |
Varsome | rs397516351 |
LitVar | rs397516351 |
Map | rs397516351 |
PheGenI | rs397516351 |
Biobank | rs397516351 |
1000 genomes | rs397516351 |
hgdp | rs397516351 |
ensembl | rs397516351 |
geneview | rs397516351 |
scholar | rs397516351 |
rs397516351 | |
pharmgkb | rs397516351 |
gwascentral | rs397516351 |
openSNP | rs397516351 |
23andMe | rs397516351 |
SNPshot | rs397516351 |
SNPdbe | rs397516351 |
MSV3d | rs397516351 |
GWAS Ctlg | rs397516351 |
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 | rs397516351(-;-) |
Alt | rs397516351(-;-) |
Reference | Rs397516351(AAG;AAG) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | TNNI3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000019.9:g.55665413_55665415delCTT |
CLNSRC | ClinVar |
CLNACC | RCV000036297.2, |