rs121913011
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
Make rs121913011(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31524554 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs121913011 |
dbSNP (classic) | rs121913011 |
ClinGen | rs121913011 |
ebi | rs121913011 |
HLI | rs121913011 |
Exac | rs121913011 |
Gnomad | rs121913011 |
Varsome | rs121913011 |
LitVar | rs121913011 |
Map | rs121913011 |
PheGenI | rs121913011 |
Biobank | rs121913011 |
1000 genomes | rs121913011 |
hgdp | rs121913011 |
ensembl | rs121913011 |
geneview | rs121913011 |
scholar | rs121913011 |
rs121913011 | |
pharmgkb | rs121913011 |
gwascentral | rs121913011 |
openSNP | rs121913011 |
23andMe | rs121913011 |
SNPshot | rs121913011 |
SNPdbe | rs121913011 |
MSV3d | rs121913011 |
GWAS Ctlg | rs121913011 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs121913011(G;G) |
Alt | rs121913011(G;G) |
Reference | Rs121913011(A;A) |
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.29104517A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018308.28, |