rs727503029
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727503029(A;A) |
Make rs727503029(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 74054715 |
Gene | ELN |
is a | snp |
is | mentioned by |
dbSNP | rs727503029 |
dbSNP (classic) | rs727503029 |
ClinGen | rs727503029 |
ebi | rs727503029 |
HLI | rs727503029 |
Exac | rs727503029 |
Gnomad | rs727503029 |
Varsome | rs727503029 |
LitVar | rs727503029 |
Map | rs727503029 |
PheGenI | rs727503029 |
Biobank | rs727503029 |
1000 genomes | rs727503029 |
hgdp | rs727503029 |
ensembl | rs727503029 |
geneview | rs727503029 |
scholar | rs727503029 |
rs727503029 | |
pharmgkb | rs727503029 |
gwascentral | rs727503029 |
openSNP | rs727503029 |
23andMe | rs727503029 |
SNPshot | rs727503029 |
SNPdbe | rs727503029 |
MSV3d | rs727503029 |
GWAS Ctlg | rs727503029 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503029(A;A) |
Alt | rs727503029(A;A) |
Reference | Rs727503029(G;G) |
Significance | Pathogenic |
Disease | Supravalvar aortic stenosis |
Variation | info |
Gene | ELN |
CLNDBN | Supravalvar aortic stenosis |
Reversed | 0 |
HGVS | NC_000007.13:g.73469045G>A |
CLNSRC | |
CLNACC | RCV000150638.1, |