rs397517022
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CAGT;TCCTG) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(TCCTG;TCCTG) | 0 | common in clinvar |
Make rs397517022(CAGT;CAGT) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 32796260 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs397517022 |
dbSNP (classic) | rs397517022 |
ClinGen | rs397517022 |
ebi | rs397517022 |
HLI | rs397517022 |
Exac | rs397517022 |
Gnomad | rs397517022 |
Varsome | rs397517022 |
LitVar | rs397517022 |
Map | rs397517022 |
PheGenI | rs397517022 |
Biobank | rs397517022 |
1000 genomes | rs397517022 |
hgdp | rs397517022 |
ensembl | rs397517022 |
geneview | rs397517022 |
scholar | rs397517022 |
rs397517022 | |
pharmgkb | rs397517022 |
gwascentral | rs397517022 |
openSNP | rs397517022 |
23andMe | rs397517022 |
SNPshot | rs397517022 |
SNPdbe | rs397517022 |
MSV3d | rs397517022 |
GWAS Ctlg | rs397517022 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs397517022(CAGT;CAGT) |
Alt | rs397517022(CAGT;CAGT) |
Reference | Rs397517022(TCCTG;TCCTG) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 1 |
HGVS | NC_000012.11:g.32949194_32949198delCAGGAinsACTG |
CLNSRC | ClinVar |
CLNACC | RCV000038205.2, |