rs151212477
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 1 | Extremely likely to be a miscall in Ancestry data (and possibly data from other companies using the same chip type as Ancestry) |
(G;G) | 0 | common in clinvar |
Make rs151212477(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 12 |
Position | 32843203 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs151212477 |
dbSNP (classic) | rs151212477 |
ClinGen | rs151212477 |
ebi | rs151212477 |
HLI | rs151212477 |
Exac | rs151212477 |
Gnomad | rs151212477 |
Varsome | rs151212477 |
LitVar | rs151212477 |
Map | rs151212477 |
PheGenI | rs151212477 |
Biobank | rs151212477 |
1000 genomes | rs151212477 |
hgdp | rs151212477 |
ensembl | rs151212477 |
geneview | rs151212477 |
scholar | rs151212477 |
rs151212477 | |
pharmgkb | rs151212477 |
gwascentral | rs151212477 |
openSNP | rs151212477 |
23andMe | rs151212477 |
SNPshot | rs151212477 |
SNPdbe | rs151212477 |
MSV3d | rs151212477 |
GWAS Ctlg | rs151212477 |
Max Magnitude | 1 |
c.1489C>T (p.Arg497Ter)
ClinVar | |
---|---|
Risk | Rs151212477(A;A) |
Alt | Rs151212477(A;A) |
Reference | Rs151212477(G;G) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 9 |
Reversed | 0 |
HGVS | NC_000012.11:g.32996137G>A |
CLNSRC | |
CLNACC | RCV000262179.1, |