rs758950880
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs758950880(C;C) |
Make rs758950880(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 31068145 |
Gene | DSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs758950880 |
dbSNP (classic) | rs758950880 |
ClinGen | rs758950880 |
ebi | rs758950880 |
HLI | rs758950880 |
Exac | rs758950880 |
Gnomad | rs758950880 |
Varsome | rs758950880 |
LitVar | rs758950880 |
Map | rs758950880 |
PheGenI | rs758950880 |
Biobank | rs758950880 |
1000 genomes | rs758950880 |
hgdp | rs758950880 |
ensembl | rs758950880 |
geneview | rs758950880 |
scholar | rs758950880 |
rs758950880 | |
pharmgkb | rs758950880 |
gwascentral | rs758950880 |
openSNP | rs758950880 |
23andMe | rs758950880 |
SNPshot | rs758950880 |
SNPdbe | rs758950880 |
MSV3d | rs758950880 |
GWAS Ctlg | rs758950880 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758950880(C;C) |
Alt | rs758950880(C;C) |
Reference | Rs758950880(T;T) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | DSC2 |
CLNDBN | Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.28648111T>C |
CLNSRC | |
CLNACC | RCV000181180.1, |