rs397516996
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516996(-;-) |
Make rs397516996(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 32896718 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516996 |
dbSNP (classic) | rs397516996 |
ClinGen | rs397516996 |
ebi | rs397516996 |
HLI | rs397516996 |
Exac | rs397516996 |
Gnomad | rs397516996 |
Varsome | rs397516996 |
LitVar | rs397516996 |
Map | rs397516996 |
PheGenI | rs397516996 |
Biobank | rs397516996 |
1000 genomes | rs397516996 |
hgdp | rs397516996 |
ensembl | rs397516996 |
geneview | rs397516996 |
scholar | rs397516996 |
rs397516996 | |
pharmgkb | rs397516996 |
gwascentral | rs397516996 |
openSNP | rs397516996 |
23andMe | rs397516996 |
SNPshot | rs397516996 |
SNPdbe | rs397516996 |
MSV3d | rs397516996 |
GWAS Ctlg | rs397516996 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516996(-;-) |
Alt | rs397516996(-;-) |
Reference | Rs397516996(G;G) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy not provided |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.33049652delC |
CLNSRC | ClinVar |
CLNACC | RCV000038166.2, RCV000183791.3, |