rs200830807
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200830807(A;A) |
Make rs200830807(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 31546426 |
Gene | DSG2, DSG2-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs200830807 |
dbSNP (classic) | rs200830807 |
ClinGen | rs200830807 |
ebi | rs200830807 |
HLI | rs200830807 |
Exac | rs200830807 |
Gnomad | rs200830807 |
Varsome | rs200830807 |
LitVar | rs200830807 |
Map | rs200830807 |
PheGenI | rs200830807 |
Biobank | rs200830807 |
1000 genomes | rs200830807 |
hgdp | rs200830807 |
ensembl | rs200830807 |
geneview | rs200830807 |
scholar | rs200830807 |
rs200830807 | |
pharmgkb | rs200830807 |
gwascentral | rs200830807 |
openSNP | rs200830807 |
23andMe | rs200830807 |
SNPshot | rs200830807 |
SNPdbe | rs200830807 |
MSV3d | rs200830807 |
GWAS Ctlg | rs200830807 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200830807(A;A) |
Alt | rs200830807(A;A) |
Reference | Rs200830807(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Dilated cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSG2-AS1 DSG2 |
CLNDBN | not specified Dilated cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy, type 10 |
Reversed | 0 |
HGVS | NC_000018.9:g.29126389G>A |
CLNSRC | |
CLNACC | RCV000037296.3, RCV000171834.1, RCV000242473.1, RCV000473314.1, |