rs397516919
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(G;G) | 0 | common in clinvar |
Make rs397516919(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 7570512 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs397516919 |
dbSNP (classic) | rs397516919 |
ClinGen | rs397516919 |
ebi | rs397516919 |
HLI | rs397516919 |
Exac | rs397516919 |
Gnomad | rs397516919 |
Varsome | rs397516919 |
LitVar | rs397516919 |
Map | rs397516919 |
PheGenI | rs397516919 |
Biobank | rs397516919 |
1000 genomes | rs397516919 |
hgdp | rs397516919 |
ensembl | rs397516919 |
geneview | rs397516919 |
scholar | rs397516919 |
rs397516919 | |
pharmgkb | rs397516919 |
gwascentral | rs397516919 |
openSNP | rs397516919 |
23andMe | rs397516919 |
SNPshot | rs397516919 |
SNPdbe | rs397516919 |
MSV3d | rs397516919 |
GWAS Ctlg | rs397516919 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs397516919(A;A) |
Alt | rs397516919(A;A) |
Reference | Rs397516919(G;G) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy not provided |
Variation | info |
Gene | DSP |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.7570745G>A |
CLNSRC | ClinVar |
CLNACC | RCV000037998.2, RCV000494601.1, |