rs727504433
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727504433(-;-) |
Make rs727504433(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 74056328 |
Gene | ELN |
is a | snp |
is | mentioned by |
dbSNP | rs727504433 |
dbSNP (classic) | rs727504433 |
ClinGen | rs727504433 |
ebi | rs727504433 |
HLI | rs727504433 |
Exac | rs727504433 |
Gnomad | rs727504433 |
Varsome | rs727504433 |
LitVar | rs727504433 |
Map | rs727504433 |
PheGenI | rs727504433 |
Biobank | rs727504433 |
1000 genomes | rs727504433 |
hgdp | rs727504433 |
ensembl | rs727504433 |
geneview | rs727504433 |
scholar | rs727504433 |
rs727504433 | |
pharmgkb | rs727504433 |
gwascentral | rs727504433 |
openSNP | rs727504433 |
23andMe | rs727504433 |
SNPshot | rs727504433 |
SNPdbe | rs727504433 |
MSV3d | rs727504433 |
GWAS Ctlg | rs727504433 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504433(-;-) |
Alt | rs727504433(-;-) |
Reference | Rs727504433(G;G) |
Significance | Pathogenic |
Disease | Supravalvar aortic stenosis |
Variation | info |
Gene | ELN |
CLNDBN | Supravalvar aortic stenosis |
Reversed | 0 |
HGVS | NC_000007.13:g.73470658delG |
CLNSRC | |
CLNACC | RCV000154672.1, |