rs121913007
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(G;G) | 0 | common in clinvar |
Make rs121913007(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31524792 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs121913007 |
dbSNP (classic) | rs121913007 |
ClinGen | rs121913007 |
ebi | rs121913007 |
HLI | rs121913007 |
Exac | rs121913007 |
Gnomad | rs121913007 |
Varsome | rs121913007 |
LitVar | rs121913007 |
Map | rs121913007 |
PheGenI | rs121913007 |
Biobank | rs121913007 |
1000 genomes | rs121913007 |
hgdp | rs121913007 |
ensembl | rs121913007 |
geneview | rs121913007 |
scholar | rs121913007 |
rs121913007 | |
pharmgkb | rs121913007 |
gwascentral | rs121913007 |
openSNP | rs121913007 |
23andMe | rs121913007 |
SNPshot | rs121913007 |
SNPdbe | rs121913007 |
MSV3d | rs121913007 |
GWAS Ctlg | rs121913007 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs121913007(A;A) |
Alt | rs121913007(A;A) |
Reference | Rs121913007(G;G) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy not provided |
Variation | info |
Gene | DSG2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 10 not provided |
Reversed | 0 |
HGVS | NC_000018.9:g.29104755G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018304.31, RCV000181248.1, |