rs397516484
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516484(A;A) |
Make rs397516484(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 201359244 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516484 |
dbSNP (classic) | rs397516484 |
ClinGen | rs397516484 |
ebi | rs397516484 |
HLI | rs397516484 |
Exac | rs397516484 |
Gnomad | rs397516484 |
Varsome | rs397516484 |
LitVar | rs397516484 |
Map | rs397516484 |
PheGenI | rs397516484 |
Biobank | rs397516484 |
1000 genomes | rs397516484 |
hgdp | rs397516484 |
ensembl | rs397516484 |
geneview | rs397516484 |
scholar | rs397516484 |
rs397516484 | |
pharmgkb | rs397516484 |
gwascentral | rs397516484 |
openSNP | rs397516484 |
23andMe | rs397516484 |
SNPshot | rs397516484 |
SNPdbe | rs397516484 |
MSV3d | rs397516484 |
GWAS Ctlg | rs397516484 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516484(A;A) rs397516484(C;C) |
Alt | rs397516484(A;A) rs397516484(C;C) |
Reference | Rs397516484(G;G) |
Significance | Pathogenic |
Disease | not specified not provided Familial hypertrophic cardiomyopathy 1 |
Variation | info |
Gene | TNNT2 |
CLNDBN | not specified not provided Familial hypertrophic cardiomyopathy 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.201328372C>G; NC_000001.10:g.201328372C>T |
CLNSRC | |
CLNACC | RCV000154217.2, RCV000225728.1, RCV000036623.2, RCV000201870.1, |