rs397516471
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516471(A;A) |
Make rs397516471(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 201363348 |
Gene | TNNT2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516471 |
dbSNP (classic) | rs397516471 |
ClinGen | rs397516471 |
ebi | rs397516471 |
HLI | rs397516471 |
Exac | rs397516471 |
Gnomad | rs397516471 |
Varsome | rs397516471 |
LitVar | rs397516471 |
Map | rs397516471 |
PheGenI | rs397516471 |
Biobank | rs397516471 |
1000 genomes | rs397516471 |
hgdp | rs397516471 |
ensembl | rs397516471 |
geneview | rs397516471 |
scholar | rs397516471 |
rs397516471 | |
pharmgkb | rs397516471 |
gwascentral | rs397516471 |
openSNP | rs397516471 |
23andMe | rs397516471 |
SNPshot | rs397516471 |
SNPdbe | rs397516471 |
MSV3d | rs397516471 |
GWAS Ctlg | rs397516471 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516471(A;A) |
Alt | rs397516471(A;A) |
Reference | Rs397516471(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy not provided Left ventricular noncompaction 6 |
Variation | info |
Gene | TNNT2 |
CLNDBN | Primary dilated cardiomyopathy not provided Left ventricular noncompaction 6 |
Reversed | 1 |
HGVS | NC_000001.10:g.201332476C>T |
CLNSRC | ClinVar |
CLNACC | RCV000036597.2, RCV000159340.3, RCV000233887.2, |