rs1064792929
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCC;TCC) | 0 | common in clinvar |
Chromosome | 12 |
Position | 32821418 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs1064792929 |
dbSNP (classic) | rs1064792929 |
ClinGen | rs1064792929 |
ebi | rs1064792929 |
HLI | rs1064792929 |
Exac | rs1064792929 |
Gnomad | rs1064792929 |
Varsome | rs1064792929 |
LitVar | rs1064792929 |
Map | rs1064792929 |
PheGenI | rs1064792929 |
Biobank | rs1064792929 |
1000 genomes | rs1064792929 |
hgdp | rs1064792929 |
ensembl | rs1064792929 |
geneview | rs1064792929 |
scholar | rs1064792929 |
rs1064792929 | |
pharmgkb | rs1064792929 |
gwascentral | rs1064792929 |
openSNP | rs1064792929 |
23andMe | rs1064792929 |
SNPshot | rs1064792929 |
SNPdbe | rs1064792929 |
MSV3d | rs1064792929 |
GWAS Ctlg | rs1064792929 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064792929(ATCGCCAAAA;ATCGCCAAAA) |
Alt | rs1064792929(ATCGCCAAAA;ATCGCCAAAA) |
Reference | Rs1064792929(TCC;TCC) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 9 |
Reversed | 1 |
HGVS | NC_000012.11:g.32974352_32974354delGGAinsTTTTGGCGAT |
CLNSRC | |
CLNACC | RCV000458870.1, |