rs794729098
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(T;T) | 0 | common in clinvar |
Make rs794729098(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 32796212 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs794729098 |
dbSNP (classic) | rs794729098 |
ClinGen | rs794729098 |
ebi | rs794729098 |
HLI | rs794729098 |
Exac | rs794729098 |
Gnomad | rs794729098 |
Varsome | rs794729098 |
LitVar | rs794729098 |
Map | rs794729098 |
PheGenI | rs794729098 |
Biobank | rs794729098 |
1000 genomes | rs794729098 |
hgdp | rs794729098 |
ensembl | rs794729098 |
geneview | rs794729098 |
scholar | rs794729098 |
rs794729098 | |
pharmgkb | rs794729098 |
gwascentral | rs794729098 |
openSNP | rs794729098 |
23andMe | rs794729098 |
SNPshot | rs794729098 |
SNPdbe | rs794729098 |
MSV3d | rs794729098 |
GWAS Ctlg | rs794729098 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs794729098(C;C) |
Alt | rs794729098(C;C) |
Reference | Rs794729098(T;T) |
Significance | Pathogenic |
Disease | not provided Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | not provided Arrhythmogenic right ventricular cardiomyopathy, type 9 |
Reversed | 1 |
HGVS | NC_000012.11:g.32949146A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000183710.3, RCV000456556.1, |