rs397516709
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397516709(C;C) |
Make rs397516709(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31521245 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516709 |
dbSNP (classic) | rs397516709 |
ClinGen | rs397516709 |
ebi | rs397516709 |
HLI | rs397516709 |
Exac | rs397516709 |
Gnomad | rs397516709 |
Varsome | rs397516709 |
LitVar | rs397516709 |
Map | rs397516709 |
PheGenI | rs397516709 |
Biobank | rs397516709 |
1000 genomes | rs397516709 |
hgdp | rs397516709 |
ensembl | rs397516709 |
geneview | rs397516709 |
scholar | rs397516709 |
rs397516709 | |
pharmgkb | rs397516709 |
gwascentral | rs397516709 |
openSNP | rs397516709 |
23andMe | rs397516709 |
SNPshot | rs397516709 |
SNPdbe | rs397516709 |
MSV3d | rs397516709 |
GWAS Ctlg | rs397516709 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516709(C;C) |
Alt | rs397516709(C;C) |
Reference | Rs397516709(T;T) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype |
Variation | info |
Gene | DSG2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy, type 10 Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000018.9:g.29101208T>C |
CLNSRC | ClinVar |
CLNACC | RCV000037309.3, RCV000181206.3, RCV000232524.1, RCV000241644.1, |