rs397516927
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397516927(-;A) |
Make rs397516927(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 7577013 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs397516927 |
dbSNP (classic) | rs397516927 |
ClinGen | rs397516927 |
ebi | rs397516927 |
HLI | rs397516927 |
Exac | rs397516927 |
Gnomad | rs397516927 |
Varsome | rs397516927 |
LitVar | rs397516927 |
Map | rs397516927 |
PheGenI | rs397516927 |
Biobank | rs397516927 |
1000 genomes | rs397516927 |
hgdp | rs397516927 |
ensembl | rs397516927 |
geneview | rs397516927 |
scholar | rs397516927 |
rs397516927 | |
pharmgkb | rs397516927 |
gwascentral | rs397516927 |
openSNP | rs397516927 |
23andMe | rs397516927 |
SNPshot | rs397516927 |
SNPdbe | rs397516927 |
MSV3d | rs397516927 |
GWAS Ctlg | rs397516927 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516927(A;A) |
Alt | rs397516927(A;A) |
Reference | Rs397516927(-;-) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy |
Variation | info |
Gene | DSP |
CLNDBN | Primary dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_000006.11:g.7577246dupA |
CLNSRC | ClinVar |
CLNACC | RCV000038020.2, |