rs786205353
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786205353(-;G) |
Make rs786205353(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 32877900 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs786205353 |
dbSNP (classic) | rs786205353 |
ClinGen | rs786205353 |
ebi | rs786205353 |
HLI | rs786205353 |
Exac | rs786205353 |
Gnomad | rs786205353 |
Varsome | rs786205353 |
LitVar | rs786205353 |
Map | rs786205353 |
PheGenI | rs786205353 |
Biobank | rs786205353 |
1000 genomes | rs786205353 |
hgdp | rs786205353 |
ensembl | rs786205353 |
geneview | rs786205353 |
scholar | rs786205353 |
rs786205353 | |
pharmgkb | rs786205353 |
gwascentral | rs786205353 |
openSNP | rs786205353 |
23andMe | rs786205353 |
SNPshot | rs786205353 |
SNPdbe | rs786205353 |
MSV3d | rs786205353 |
GWAS Ctlg | rs786205353 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205353(G;G) |
Alt | rs786205353(G;G) |
Reference | Rs786205353(-;-) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 1 |
HGVS | NC_000012.11:g.33030835dupC |
CLNSRC | |
CLNACC | RCV000171843.2, |