rs397516987
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397516987(A;A) |
Make rs397516987(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 32868925 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516987 |
dbSNP (classic) | rs397516987 |
ClinGen | rs397516987 |
ebi | rs397516987 |
HLI | rs397516987 |
Exac | rs397516987 |
Gnomad | rs397516987 |
Varsome | rs397516987 |
LitVar | rs397516987 |
Map | rs397516987 |
PheGenI | rs397516987 |
Biobank | rs397516987 |
1000 genomes | rs397516987 |
hgdp | rs397516987 |
ensembl | rs397516987 |
geneview | rs397516987 |
scholar | rs397516987 |
rs397516987 | |
pharmgkb | rs397516987 |
gwascentral | rs397516987 |
openSNP | rs397516987 |
23andMe | rs397516987 |
SNPshot | rs397516987 |
SNPdbe | rs397516987 |
MSV3d | rs397516987 |
GWAS Ctlg | rs397516987 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516987(A;A) |
Alt | rs397516987(A;A) |
Reference | Rs397516987(T;T) |
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.33021859A>T |
CLNSRC | ClinVar |
CLNACC | RCV000038150.2, RCV000183737.1, |