rs794729067
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs794729067(-;-) |
Make rs794729067(-;TG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 20 |
Position | 31826887 |
Gene | MYLK2 |
is a | snp |
is | mentioned by |
dbSNP | rs794729067 |
dbSNP (classic) | rs794729067 |
ClinGen | rs794729067 |
ebi | rs794729067 |
HLI | rs794729067 |
Exac | rs794729067 |
Gnomad | rs794729067 |
Varsome | rs794729067 |
LitVar | rs794729067 |
Map | rs794729067 |
PheGenI | rs794729067 |
Biobank | rs794729067 |
1000 genomes | rs794729067 |
hgdp | rs794729067 |
ensembl | rs794729067 |
geneview | rs794729067 |
scholar | rs794729067 |
rs794729067 | |
pharmgkb | rs794729067 |
gwascentral | rs794729067 |
openSNP | rs794729067 |
23andMe | rs794729067 |
SNPshot | rs794729067 |
SNPdbe | rs794729067 |
MSV3d | rs794729067 |
GWAS Ctlg | rs794729067 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729067(-;-) |
Alt | rs794729067(-;-) |
Reference | Rs794729067(TG;TG) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy not provided |
Variation | info |
Gene | MYLK2 |
CLNDBN | Cardiomyopathy not provided |
Reversed | 0 |
HGVS | NC_000020.10:g.30414690_30414691delTG |
CLNSRC | |
CLNACC | RCV000183562.1, RCV000481664.1, |