rs25404
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
(G;G) | 0 | common in clinvar |
(G;T) | 5.5 | Marfan syndrome mutation |
Make rs25404(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48613009 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs25404 |
dbSNP (classic) | rs25404 |
ClinGen | rs25404 |
ebi | rs25404 |
HLI | rs25404 |
Exac | rs25404 |
Gnomad | rs25404 |
Varsome | rs25404 |
LitVar | rs25404 |
Map | rs25404 |
PheGenI | rs25404 |
Biobank | rs25404 |
1000 genomes | rs25404 |
hgdp | rs25404 |
ensembl | rs25404 |
geneview | rs25404 |
scholar | rs25404 |
rs25404 | |
pharmgkb | rs25404 |
gwascentral | rs25404 |
openSNP | rs25404 |
23andMe | rs25404 |
SNPshot | rs25404 |
SNPdbe | rs25404 |
MSV3d | rs25404 |
GWAS Ctlg | rs25404 |
Max Magnitude | 6.5 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs25404(A;A) |
Alt | rs25404(A;A) |
Reference | Rs25404(G;G) |
Significance | Pathogenic |
Disease | Marfan syndrome not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.48905206C>T |
CLNSRC | ClinVar |
CLNACC | RCV000035141.2, RCV000181642.4, |