rs780970079
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs780970079(-;CTTC) |
Make rs780970079(CTTC;CTTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 31068135 |
Gene | DSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs780970079 |
dbSNP (classic) | rs780970079 |
ClinGen | rs780970079 |
ebi | rs780970079 |
HLI | rs780970079 |
Exac | rs780970079 |
Gnomad | rs780970079 |
Varsome | rs780970079 |
LitVar | rs780970079 |
Map | rs780970079 |
PheGenI | rs780970079 |
Biobank | rs780970079 |
1000 genomes | rs780970079 |
hgdp | rs780970079 |
ensembl | rs780970079 |
geneview | rs780970079 |
scholar | rs780970079 |
rs780970079 | |
pharmgkb | rs780970079 |
gwascentral | rs780970079 |
openSNP | rs780970079 |
23andMe | rs780970079 |
SNPshot | rs780970079 |
SNPdbe | rs780970079 |
MSV3d | rs780970079 |
GWAS Ctlg | rs780970079 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780970079(CTTC;CTTC) |
Alt | rs780970079(CTTC;CTTC) |
Reference | Rs780970079(;) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | DSC2 |
CLNDBN | Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.28648102_28648105dupCTTC |
CLNSRC | |
CLNACC | RCV000181182.1, |