rs397516986
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
Make rs397516986(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 32868965 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516986 |
dbSNP (classic) | rs397516986 |
ClinGen | rs397516986 |
ebi | rs397516986 |
HLI | rs397516986 |
Exac | rs397516986 |
Gnomad | rs397516986 |
Varsome | rs397516986 |
LitVar | rs397516986 |
Map | rs397516986 |
PheGenI | rs397516986 |
Biobank | rs397516986 |
1000 genomes | rs397516986 |
hgdp | rs397516986 |
ensembl | rs397516986 |
geneview | rs397516986 |
scholar | rs397516986 |
rs397516986 | |
pharmgkb | rs397516986 |
gwascentral | rs397516986 |
openSNP | rs397516986 |
23andMe | rs397516986 |
SNPshot | rs397516986 |
SNPdbe | rs397516986 |
MSV3d | rs397516986 |
GWAS Ctlg | rs397516986 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs397516986(T;T) |
Alt | rs397516986(T;T) |
Reference | Rs397516986(C;C) |
Significance | Other |
Disease | not provided Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | not provided Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 1 |
HGVS | NC_000012.11:g.33021899G>A |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000183735.2, RCV000211737.2, |