rs727504443
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727504443(A;A) |
Make rs727504443(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 7565521 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs727504443 |
dbSNP (classic) | rs727504443 |
ClinGen | rs727504443 |
ebi | rs727504443 |
HLI | rs727504443 |
Exac | rs727504443 |
Gnomad | rs727504443 |
Varsome | rs727504443 |
LitVar | rs727504443 |
Map | rs727504443 |
PheGenI | rs727504443 |
Biobank | rs727504443 |
1000 genomes | rs727504443 |
hgdp | rs727504443 |
ensembl | rs727504443 |
geneview | rs727504443 |
scholar | rs727504443 |
rs727504443 | |
pharmgkb | rs727504443 |
gwascentral | rs727504443 |
openSNP | rs727504443 |
23andMe | rs727504443 |
SNPshot | rs727504443 |
SNPdbe | rs727504443 |
MSV3d | rs727504443 |
GWAS Ctlg | rs727504443 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504443(A;A) |
Alt | rs727504443(A;A) |
Reference | Rs727504443(G;G) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy not provided |
Variation | info |
Gene | DSP |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.7565754G>A |
CLNSRC | |
CLNACC | RCV000155023.5, RCV000211717.1, RCV000257924.2, RCV000421912.1, |