rs397517021
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CACACC;CACACC) | 0 | common in clinvar |
Make rs397517021(CACACC;G) |
Make rs397517021(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 32802500 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs397517021 |
dbSNP (classic) | rs397517021 |
ClinGen | rs397517021 |
ebi | rs397517021 |
HLI | rs397517021 |
Exac | rs397517021 |
Gnomad | rs397517021 |
Varsome | rs397517021 |
LitVar | rs397517021 |
Map | rs397517021 |
PheGenI | rs397517021 |
Biobank | rs397517021 |
1000 genomes | rs397517021 |
hgdp | rs397517021 |
ensembl | rs397517021 |
geneview | rs397517021 |
scholar | rs397517021 |
rs397517021 | |
pharmgkb | rs397517021 |
gwascentral | rs397517021 |
openSNP | rs397517021 |
23andMe | rs397517021 |
SNPshot | rs397517021 |
SNPdbe | rs397517021 |
MSV3d | rs397517021 |
GWAS Ctlg | rs397517021 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517021(G;G) |
Alt | rs397517021(G;G) |
Reference | Rs397517021(CACACC;CACACC) |
Significance | Pathogenic |
Disease | not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype |
Variation | info |
Gene | PKP2 |
CLNDBN | not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype |
Reversed | 1 |
HGVS | NC_000012.11:g.32955434_32955439delGGTGTGinsC |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000183813.3, RCV000211842.2, RCV000247451.1, |