rs375679311
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs375679311(A;G) |
Make rs375679311(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 31536256 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs375679311 |
dbSNP (classic) | rs375679311 |
ClinGen | rs375679311 |
ebi | rs375679311 |
HLI | rs375679311 |
Exac | rs375679311 |
Gnomad | rs375679311 |
Varsome | rs375679311 |
LitVar | rs375679311 |
Map | rs375679311 |
PheGenI | rs375679311 |
Biobank | rs375679311 |
1000 genomes | rs375679311 |
hgdp | rs375679311 |
ensembl | rs375679311 |
geneview | rs375679311 |
scholar | rs375679311 |
rs375679311 | |
pharmgkb | rs375679311 |
gwascentral | rs375679311 |
openSNP | rs375679311 |
23andMe | rs375679311 |
SNPshot | rs375679311 |
SNPdbe | rs375679311 |
MSV3d | rs375679311 |
GWAS Ctlg | rs375679311 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375679311(G;G) |
Alt | rs375679311(G;G) |
Reference | Rs375679311(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSG2 |
CLNDBN | not specified Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy, type 10 |
Reversed | 0 |
HGVS | NC_000018.9:g.29116219A>G |
CLNSRC | |
CLNACC | RCV000150540.2, RCV000171832.2, RCV000246903.1, RCV000458560.1, |