rs730880355
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730880355(-;A) |
Make rs730880355(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 74054732 |
Gene | ELN |
is a | snp |
is | mentioned by |
dbSNP | rs730880355 |
dbSNP (classic) | rs730880355 |
ClinGen | rs730880355 |
ebi | rs730880355 |
HLI | rs730880355 |
Exac | rs730880355 |
Gnomad | rs730880355 |
Varsome | rs730880355 |
LitVar | rs730880355 |
Map | rs730880355 |
PheGenI | rs730880355 |
Biobank | rs730880355 |
1000 genomes | rs730880355 |
hgdp | rs730880355 |
ensembl | rs730880355 |
geneview | rs730880355 |
scholar | rs730880355 |
rs730880355 | |
pharmgkb | rs730880355 |
gwascentral | rs730880355 |
openSNP | rs730880355 |
23andMe | rs730880355 |
SNPshot | rs730880355 |
SNPdbe | rs730880355 |
MSV3d | rs730880355 |
GWAS Ctlg | rs730880355 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880355(A;A) |
Alt | rs730880355(A;A) |
Reference | Rs730880355(-;-) |
Significance | Pathogenic |
Disease | Supravalvar aortic stenosis |
Variation | info |
Gene | ELN |
CLNDBN | Supravalvar aortic stenosis |
Reversed | 0 |
HGVS | NC_000007.13:g.73469062dupA |
CLNSRC | |
CLNACC | RCV000156058.1, |