rs760576804
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
Make rs760576804(C;G) |
Make rs760576804(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 32878512 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs760576804 |
dbSNP (classic) | rs760576804 |
ClinGen | rs760576804 |
ebi | rs760576804 |
HLI | rs760576804 |
Exac | rs760576804 |
Gnomad | rs760576804 |
Varsome | rs760576804 |
LitVar | rs760576804 |
Map | rs760576804 |
PheGenI | rs760576804 |
Biobank | rs760576804 |
1000 genomes | rs760576804 |
hgdp | rs760576804 |
ensembl | rs760576804 |
geneview | rs760576804 |
scholar | rs760576804 |
rs760576804 | |
pharmgkb | rs760576804 |
gwascentral | rs760576804 |
openSNP | rs760576804 |
23andMe | rs760576804 |
SNPshot | rs760576804 |
SNPdbe | rs760576804 |
MSV3d | rs760576804 |
GWAS Ctlg | rs760576804 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs760576804(G;G) rs760576804(T;T) |
Alt | rs760576804(G;G) rs760576804(T;T) |
Reference | Rs760576804(C;C) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy not provided |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 9 not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.33031446C>T |
CLNSRC | |
CLNACC | RCV000177212.1, RCV000183716.4, |