rs727503000
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6.7 | Arrhythmogenic right ventricular dysplasia |
Make rs727503000(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 7579664 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs727503000 |
dbSNP (classic) | rs727503000 |
ClinGen | rs727503000 |
ebi | rs727503000 |
HLI | rs727503000 |
Exac | rs727503000 |
Gnomad | rs727503000 |
Varsome | rs727503000 |
LitVar | rs727503000 |
Map | rs727503000 |
PheGenI | rs727503000 |
Biobank | rs727503000 |
1000 genomes | rs727503000 |
hgdp | rs727503000 |
ensembl | rs727503000 |
geneview | rs727503000 |
scholar | rs727503000 |
rs727503000 | |
pharmgkb | rs727503000 |
gwascentral | rs727503000 |
openSNP | rs727503000 |
23andMe | rs727503000 |
SNPshot | rs727503000 |
SNPdbe | rs727503000 |
MSV3d | rs727503000 |
GWAS Ctlg | rs727503000 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs727503000(A;A) |
Alt | rs727503000(A;A) |
Reference | Rs727503000(-;-) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | DSP |
CLNDBN | Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000006.11:g.7579897dupA |
CLNSRC | |
CLNACC | RCV000150566.2, |