rs397516973
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397516973(A;A) |
Make rs397516973(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 7565448 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs397516973 |
dbSNP (classic) | rs397516973 |
ClinGen | rs397516973 |
ebi | rs397516973 |
HLI | rs397516973 |
Exac | rs397516973 |
Gnomad | rs397516973 |
Varsome | rs397516973 |
LitVar | rs397516973 |
Map | rs397516973 |
PheGenI | rs397516973 |
Biobank | rs397516973 |
1000 genomes | rs397516973 |
hgdp | rs397516973 |
ensembl | rs397516973 |
geneview | rs397516973 |
scholar | rs397516973 |
rs397516973 | |
pharmgkb | rs397516973 |
gwascentral | rs397516973 |
openSNP | rs397516973 |
23andMe | rs397516973 |
SNPshot | rs397516973 |
SNPdbe | rs397516973 |
MSV3d | rs397516973 |
GWAS Ctlg | rs397516973 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516973(A;A) rs397516973(T;T) |
Alt | rs397516973(A;A) rs397516973(T;T) |
Reference | Rs397516973(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy not specified |
Variation | info |
Gene | DSP |
CLNDBN | Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy not specified |
Reversed | 0 |
HGVS | NC_000006.11:g.7565681C>A; NC_000006.11:g.7565681C>T |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000038115.3, RCV000168636.2, RCV000421255.1, |