rs397516848
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397516848(A;G) |
Make rs397516848(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 52451403 |
Gene | TNNC1 |
is a | snp |
is | mentioned by |
dbSNP | rs397516848 |
dbSNP (classic) | rs397516848 |
ClinGen | rs397516848 |
ebi | rs397516848 |
HLI | rs397516848 |
Exac | rs397516848 |
Gnomad | rs397516848 |
Varsome | rs397516848 |
LitVar | rs397516848 |
Map | rs397516848 |
PheGenI | rs397516848 |
Biobank | rs397516848 |
1000 genomes | rs397516848 |
hgdp | rs397516848 |
ensembl | rs397516848 |
geneview | rs397516848 |
scholar | rs397516848 |
rs397516848 | |
pharmgkb | rs397516848 |
gwascentral | rs397516848 |
openSNP | rs397516848 |
23andMe | rs397516848 |
SNPshot | rs397516848 |
SNPdbe | rs397516848 |
MSV3d | rs397516848 |
GWAS Ctlg | rs397516848 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516848(G;G) |
Alt | rs397516848(G;G) |
Reference | Rs397516848(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1Z Familial hypertrophic cardiomyopathy 13 |
Variation | info |
Gene | TNNC1 |
CLNDBN | not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1Z Familial hypertrophic cardiomyopathy 13 |
Reversed | 1 |
HGVS | NC_000003.11:g.52485419T>C |
CLNSRC | |
CLNACC | RCV000037767.2, RCV000171845.2, RCV000457083.1, |