rs397516355
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(G;G) | 0 | common in clinvar |
Make rs397516355(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 55154035 |
Gene | TNNI3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516355 |
dbSNP (classic) | rs397516355 |
ClinGen | rs397516355 |
ebi | rs397516355 |
HLI | rs397516355 |
Exac | rs397516355 |
Gnomad | rs397516355 |
Varsome | rs397516355 |
LitVar | rs397516355 |
Map | rs397516355 |
PheGenI | rs397516355 |
Biobank | rs397516355 |
1000 genomes | rs397516355 |
hgdp | rs397516355 |
ensembl | rs397516355 |
geneview | rs397516355 |
scholar | rs397516355 |
rs397516355 | |
pharmgkb | rs397516355 |
gwascentral | rs397516355 |
openSNP | rs397516355 |
23andMe | rs397516355 |
SNPshot | rs397516355 |
SNPdbe | rs397516355 |
MSV3d | rs397516355 |
GWAS Ctlg | rs397516355 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397516355(A;A) |
Alt | rs397516355(A;A) |
Reference | Rs397516355(G;G) |
Significance | Pathogenic |
Disease | Primary dilated cardiomyopathy not provided |
Variation | info |
Gene | TNNI3 |
CLNDBN | Primary dilated cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.55665403C>T |
CLNSRC | ClinVar |
CLNACC | RCV000036303.2, RCV000159235.1, |