rs397516706
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs397516706(-;-) |
Make rs397516706(-;AG) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31546447 |
Gene | DSG2, DSG2-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs397516706 |
dbSNP (classic) | rs397516706 |
ClinGen | rs397516706 |
ebi | rs397516706 |
HLI | rs397516706 |
Exac | rs397516706 |
Gnomad | rs397516706 |
Varsome | rs397516706 |
LitVar | rs397516706 |
Map | rs397516706 |
PheGenI | rs397516706 |
Biobank | rs397516706 |
1000 genomes | rs397516706 |
hgdp | rs397516706 |
ensembl | rs397516706 |
geneview | rs397516706 |
scholar | rs397516706 |
rs397516706 | |
pharmgkb | rs397516706 |
gwascentral | rs397516706 |
openSNP | rs397516706 |
23andMe | rs397516706 |
SNPshot | rs397516706 |
SNPdbe | rs397516706 |
MSV3d | rs397516706 |
GWAS Ctlg | rs397516706 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516706(-;-) |
Alt | rs397516706(-;-) |
Reference | Rs397516706(AG;AG) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSG2-AS1 DSG2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.29126410_29126411delAG |
CLNSRC | ClinVar |
CLNACC | RCV000037297.2, |