rs121913012
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913012(A;A) |
Make rs121913012(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31524865 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs121913012 |
dbSNP (classic) | rs121913012 |
ClinGen | rs121913012 |
ebi | rs121913012 |
HLI | rs121913012 |
Exac | rs121913012 |
Gnomad | rs121913012 |
Varsome | rs121913012 |
LitVar | rs121913012 |
Map | rs121913012 |
PheGenI | rs121913012 |
Biobank | rs121913012 |
1000 genomes | rs121913012 |
hgdp | rs121913012 |
ensembl | rs121913012 |
geneview | rs121913012 |
scholar | rs121913012 |
rs121913012 | |
pharmgkb | rs121913012 |
gwascentral | rs121913012 |
openSNP | rs121913012 |
23andMe | rs121913012 |
SNPshot | rs121913012 |
SNPdbe | rs121913012 |
MSV3d | rs121913012 |
GWAS Ctlg | rs121913012 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913012(A;A) |
Alt | rs121913012(A;A) |
Reference | Rs121913012(G;G) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSG2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 10 Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.29104828G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018309.28, RCV000029673.1, |
[PMID 16505173] Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.
[PMID 18007692] Genetic diseases of junctions.
[PMID 18382419] Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
[PMID 20847325] The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease.