rs786204392
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(G;G) | 0 | common in clinvar |
Make rs786204392(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 32868926 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs786204392 |
dbSNP (classic) | rs786204392 |
ClinGen | rs786204392 |
ebi | rs786204392 |
HLI | rs786204392 |
Exac | rs786204392 |
Gnomad | rs786204392 |
Varsome | rs786204392 |
LitVar | rs786204392 |
Map | rs786204392 |
PheGenI | rs786204392 |
Biobank | rs786204392 |
1000 genomes | rs786204392 |
hgdp | rs786204392 |
ensembl | rs786204392 |
geneview | rs786204392 |
scholar | rs786204392 |
rs786204392 | |
pharmgkb | rs786204392 |
gwascentral | rs786204392 |
openSNP | rs786204392 |
23andMe | rs786204392 |
SNPshot | rs786204392 |
SNPdbe | rs786204392 |
MSV3d | rs786204392 |
GWAS Ctlg | rs786204392 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs786204392(A;A) |
Alt | rs786204392(A;A) |
Reference | Rs786204392(G;G) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 9 Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 1 |
HGVS | NC_000012.11:g.33021860C>T |
CLNSRC | |
CLNACC | RCV000168932.3, RCV000257930.2, |