rs193922708
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193922708(C;T) |
Make rs193922708(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 18 |
Position | 31086683 |
Gene | DSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs193922708 |
dbSNP (classic) | rs193922708 |
ClinGen | rs193922708 |
ebi | rs193922708 |
HLI | rs193922708 |
Exac | rs193922708 |
Gnomad | rs193922708 |
Varsome | rs193922708 |
LitVar | rs193922708 |
Map | rs193922708 |
PheGenI | rs193922708 |
Biobank | rs193922708 |
1000 genomes | rs193922708 |
hgdp | rs193922708 |
ensembl | rs193922708 |
geneview | rs193922708 |
scholar | rs193922708 |
rs193922708 | |
pharmgkb | rs193922708 |
gwascentral | rs193922708 |
openSNP | rs193922708 |
23andMe | rs193922708 |
SNPshot | rs193922708 |
SNPdbe | rs193922708 |
MSV3d | rs193922708 |
GWAS Ctlg | rs193922708 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922708(T;T) |
Alt | rs193922708(T;T) |
Reference | Rs193922708(C;C) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy not provided |
Variation | info |
Gene | DSC2 |
CLNDBN | Cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000018.9:g.28666646G>A |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029665.1, RCV000171894.1, |