rs397516997
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACAG;ACAG) | 0 | common in clinvar |
Make rs397516997(-;-) |
Make rs397516997(-;ACAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 32896581 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516997 |
dbSNP (classic) | rs397516997 |
ClinGen | rs397516997 |
ebi | rs397516997 |
HLI | rs397516997 |
Exac | rs397516997 |
Gnomad | rs397516997 |
Varsome | rs397516997 |
LitVar | rs397516997 |
Map | rs397516997 |
PheGenI | rs397516997 |
Biobank | rs397516997 |
1000 genomes | rs397516997 |
hgdp | rs397516997 |
ensembl | rs397516997 |
geneview | rs397516997 |
scholar | rs397516997 |
rs397516997 | |
pharmgkb | rs397516997 |
gwascentral | rs397516997 |
openSNP | rs397516997 |
23andMe | rs397516997 |
SNPshot | rs397516997 |
SNPdbe | rs397516997 |
MSV3d | rs397516997 |
GWAS Ctlg | rs397516997 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516997(-;-) |
Alt | rs397516997(-;-) |
Reference | Rs397516997(ACAG;ACAG) |
Significance | Other |
Disease | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy, type 9 |
Reversed | 1 |
HGVS | NC_000012.11:g.33049515_33049518delCTGT |
CLNSRC | ClinVar |
CLNACC | RCV000157418.2, RCV000183796.3, RCV000228638.1, |