rs397516451
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397516451(C;T) |
Make rs397516451(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 201365636 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516451 |
dbSNP (classic) | rs397516451 |
ClinGen | rs397516451 |
ebi | rs397516451 |
HLI | rs397516451 |
Exac | rs397516451 |
Gnomad | rs397516451 |
Varsome | rs397516451 |
LitVar | rs397516451 |
Map | rs397516451 |
PheGenI | rs397516451 |
Biobank | rs397516451 |
1000 genomes | rs397516451 |
hgdp | rs397516451 |
ensembl | rs397516451 |
geneview | rs397516451 |
scholar | rs397516451 |
rs397516451 | |
pharmgkb | rs397516451 |
gwascentral | rs397516451 |
openSNP | rs397516451 |
23andMe | rs397516451 |
SNPshot | rs397516451 |
SNPdbe | rs397516451 |
MSV3d | rs397516451 |
GWAS Ctlg | rs397516451 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516451(A;A) rs397516451(T;T) |
Alt | rs397516451(A;A) rs397516451(T;T) |
Reference | Rs397516451(C;C) |
Significance | Pathogenic |
Disease | not specified Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 not provided |
Variation | info |
Gene | TNNT2 |
CLNDBN | not specified Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.201334764G>A; NC_000001.10:g.201334764G>T |
CLNSRC | |
CLNACC | RCV000036565.2, RCV000204383.1, RCV000159273.2, |