rs878854710
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACACCC;ACACCC) | 0 | common in clinvar |
Make rs878854710(ACACCC;G) |
Make rs878854710(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 32802499 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs878854710 |
dbSNP (classic) | rs878854710 |
ClinGen | rs878854710 |
ebi | rs878854710 |
HLI | rs878854710 |
Exac | rs878854710 |
Gnomad | rs878854710 |
Varsome | rs878854710 |
LitVar | rs878854710 |
Map | rs878854710 |
PheGenI | rs878854710 |
Biobank | rs878854710 |
1000 genomes | rs878854710 |
hgdp | rs878854710 |
ensembl | rs878854710 |
geneview | rs878854710 |
scholar | rs878854710 |
rs878854710 | |
pharmgkb | rs878854710 |
gwascentral | rs878854710 |
openSNP | rs878854710 |
23andMe | rs878854710 |
SNPshot | rs878854710 |
SNPdbe | rs878854710 |
MSV3d | rs878854710 |
GWAS Ctlg | rs878854710 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854710(G;G) |
Alt | rs878854710(G;G) |
Reference | Rs878854710(ACACCC;ACACCC) |
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.32955433_32955438delGGGTGTinsC |
CLNSRC | |
CLNACC | RCV000229323.1, |