rs121913009
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(G;G) | 0 | common in clinvar |
Make rs121913009(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31536298 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs121913009 |
dbSNP (classic) | rs121913009 |
ClinGen | rs121913009 |
ebi | rs121913009 |
HLI | rs121913009 |
Exac | rs121913009 |
Gnomad | rs121913009 |
Varsome | rs121913009 |
LitVar | rs121913009 |
Map | rs121913009 |
PheGenI | rs121913009 |
Biobank | rs121913009 |
1000 genomes | rs121913009 |
hgdp | rs121913009 |
ensembl | rs121913009 |
geneview | rs121913009 |
scholar | rs121913009 |
rs121913009 | |
pharmgkb | rs121913009 |
gwascentral | rs121913009 |
openSNP | rs121913009 |
23andMe | rs121913009 |
SNPshot | rs121913009 |
SNPdbe | rs121913009 |
MSV3d | rs121913009 |
GWAS Ctlg | rs121913009 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs121913009(A;A) rs121913009(T;T) |
Alt | rs121913009(A;A) rs121913009(T;T) |
Reference | Rs121913009(G;G) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSG2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 10 |
Reversed | 0 |
HGVS | NC_000018.9:g.29116261G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018306.29, |