rs794728301
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs794728301(-;-) |
Make rs794728301(-;GT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48495230 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs794728301 |
dbSNP (classic) | rs794728301 |
ClinGen | rs794728301 |
ebi | rs794728301 |
HLI | rs794728301 |
Exac | rs794728301 |
Gnomad | rs794728301 |
Varsome | rs794728301 |
LitVar | rs794728301 |
Map | rs794728301 |
PheGenI | rs794728301 |
Biobank | rs794728301 |
1000 genomes | rs794728301 |
hgdp | rs794728301 |
ensembl | rs794728301 |
geneview | rs794728301 |
scholar | rs794728301 |
rs794728301 | |
pharmgkb | rs794728301 |
gwascentral | rs794728301 |
openSNP | rs794728301 |
23andMe | rs794728301 |
SNPshot | rs794728301 |
SNPdbe | rs794728301 |
MSV3d | rs794728301 |
GWAS Ctlg | rs794728301 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728301(-;-) |
Alt | rs794728301(-;-) |
Reference | Rs794728301(GT;GT) |
Significance | Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | FBN1 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection |
Reversed | 1 |
HGVS | NC_000015.9:g.48787427_48787428delAC |
CLNSRC | |
CLNACC | RCV000181656.1, |