rs121913013
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913013(A;A) |
Make rs121913013(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31519887 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs121913013 |
dbSNP (classic) | rs121913013 |
ClinGen | rs121913013 |
ebi | rs121913013 |
HLI | rs121913013 |
Exac | rs121913013 |
Gnomad | rs121913013 |
Varsome | rs121913013 |
LitVar | rs121913013 |
Map | rs121913013 |
PheGenI | rs121913013 |
Biobank | rs121913013 |
1000 genomes | rs121913013 |
hgdp | rs121913013 |
ensembl | rs121913013 |
geneview | rs121913013 |
scholar | rs121913013 |
rs121913013 | |
pharmgkb | rs121913013 |
gwascentral | rs121913013 |
openSNP | rs121913013 |
23andMe | rs121913013 |
SNPshot | rs121913013 |
SNPdbe | rs121913013 |
MSV3d | rs121913013 |
GWAS Ctlg | rs121913013 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913013(A;A) |
Alt | rs121913013(A;A) |
Reference | Rs121913013(G;G) |
Significance | Other |
Disease | Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy 1BB not specified Arrhythmogenic right ventricular cardiomyopathy Primary familial hypertrophic cardiomyopathy Ventricular tachycardia Cardiovascular phenotype |
Variation | info |
Gene | DSG2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 10 Dilated cardiomyopathy 1BB not specified Arrhythmogenic right ventricular cardiomyopathy Primary familial hypertrophic cardiomyopathy Ventricular tachycardia, catecholaminergic polymorphic, 1 Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000018.9:g.29099850G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018311.25, RCV000018312.2, RCV000037270.4, RCV000148471.3, RCV000157179.1, RCV000157180.1, RCV000243248.1, |