rs144601090
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs144601090(A;G) |
Make rs144601090(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 32821439 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs144601090 |
dbSNP (classic) | rs144601090 |
ClinGen | rs144601090 |
ebi | rs144601090 |
HLI | rs144601090 |
Exac | rs144601090 |
Gnomad | rs144601090 |
Varsome | rs144601090 |
LitVar | rs144601090 |
Map | rs144601090 |
PheGenI | rs144601090 |
Biobank | rs144601090 |
1000 genomes | rs144601090 |
hgdp | rs144601090 |
ensembl | rs144601090 |
geneview | rs144601090 |
scholar | rs144601090 |
rs144601090 | |
pharmgkb | rs144601090 |
gwascentral | rs144601090 |
openSNP | rs144601090 |
23andMe | rs144601090 |
SNPshot | rs144601090 |
SNPdbe | rs144601090 |
MSV3d | rs144601090 |
GWAS Ctlg | rs144601090 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144601090(G;G) |
Alt | rs144601090(G;G) |
Reference | Rs144601090(A;A) |
Significance | Other |
Disease | Arrhythmogenic right ventricular cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy, type 9 |
Reversed | 0 |
HGVS | NC_000012.11:g.32974373A>G |
CLNSRC | ClinVar University of Washington |
CLNACC | RCV000038195.3, RCV000154180.3, RCV000468300.1, |