rs794729137
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(G;G) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs794729137(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 32841073 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs794729137 |
dbSNP (classic) | rs794729137 |
ClinGen | rs794729137 |
ebi | rs794729137 |
HLI | rs794729137 |
Exac | rs794729137 |
Gnomad | rs794729137 |
Varsome | rs794729137 |
LitVar | rs794729137 |
Map | rs794729137 |
PheGenI | rs794729137 |
Biobank | rs794729137 |
1000 genomes | rs794729137 |
hgdp | rs794729137 |
ensembl | rs794729137 |
geneview | rs794729137 |
scholar | rs794729137 |
rs794729137 | |
pharmgkb | rs794729137 |
gwascentral | rs794729137 |
openSNP | rs794729137 |
23andMe | rs794729137 |
SNPshot | rs794729137 |
SNPdbe | rs794729137 |
MSV3d | rs794729137 |
GWAS Ctlg | rs794729137 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs794729137(-;-) |
Alt | rs794729137(-;-) |
Reference | Rs794729137(G;G) |
Significance | Pathogenic |
Disease | not provided Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | not provided Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy, type 9 |
Reversed | 1 |
HGVS | NC_000012.11:g.32994007delC |
CLNSRC | |
CLNACC | RCV000183812.1, RCV000217215.1, RCV000229546.2, |