rs869025496
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(C;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(G;G) | 0 | common in clinvar |
(G;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
Make rs869025496(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 32877845 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs869025496 |
dbSNP (classic) | rs869025496 |
ClinGen | rs869025496 |
ebi | rs869025496 |
HLI | rs869025496 |
Exac | rs869025496 |
Gnomad | rs869025496 |
Varsome | rs869025496 |
LitVar | rs869025496 |
Map | rs869025496 |
PheGenI | rs869025496 |
Biobank | rs869025496 |
1000 genomes | rs869025496 |
hgdp | rs869025496 |
ensembl | rs869025496 |
geneview | rs869025496 |
scholar | rs869025496 |
rs869025496 | |
pharmgkb | rs869025496 |
gwascentral | rs869025496 |
openSNP | rs869025496 |
23andMe | rs869025496 |
SNPshot | rs869025496 |
SNPdbe | rs869025496 |
MSV3d | rs869025496 |
GWAS Ctlg | rs869025496 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs869025496(A;A) rs869025496(T;T) |
Alt | rs869025496(A;A) rs869025496(T;T) |
Reference | Rs869025496(G;G) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 1 |
HGVS | NC_000012.11:g.33030779C>A; NC_000012.11:g.33030779C>T |
CLNSRC | |
CLNACC | RCV000218069.1, RCV000208519.1, |