rs121434420
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
Make rs121434420(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 32879021 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs121434420 |
dbSNP (classic) | rs121434420 |
ClinGen | rs121434420 |
ebi | rs121434420 |
HLI | rs121434420 |
Exac | rs121434420 |
Gnomad | rs121434420 |
Varsome | rs121434420 |
LitVar | rs121434420 |
Map | rs121434420 |
PheGenI | rs121434420 |
Biobank | rs121434420 |
1000 genomes | rs121434420 |
hgdp | rs121434420 |
ensembl | rs121434420 |
geneview | rs121434420 |
scholar | rs121434420 |
rs121434420 | |
pharmgkb | rs121434420 |
gwascentral | rs121434420 |
openSNP | rs121434420 |
23andMe | rs121434420 |
SNPshot | rs121434420 |
SNPdbe | rs121434420 |
MSV3d | rs121434420 |
GWAS Ctlg | rs121434420 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs121434420(T;T) |
Alt | rs121434420(T;T) |
Reference | Rs121434420(C;C) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 9 not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype |
Reversed | 1 |
HGVS | NC_000012.11:g.33031955G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007146.5, RCV000183722.4, RCV000211843.1, RCV000246785.1, |