rs200309328
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
(G;G) | 0 | common in clinvar |
Make rs200309328(C;C) |
Make rs200309328(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 48412715 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs200309328 |
dbSNP (classic) | rs200309328 |
ClinGen | rs200309328 |
ebi | rs200309328 |
HLI | rs200309328 |
Exac | rs200309328 |
Gnomad | rs200309328 |
Varsome | rs200309328 |
LitVar | rs200309328 |
Map | rs200309328 |
PheGenI | rs200309328 |
Biobank | rs200309328 |
1000 genomes | rs200309328 |
hgdp | rs200309328 |
ensembl | rs200309328 |
geneview | rs200309328 |
scholar | rs200309328 |
rs200309328 | |
pharmgkb | rs200309328 |
gwascentral | rs200309328 |
openSNP | rs200309328 |
23andMe | rs200309328 |
SNPshot | rs200309328 |
SNPdbe | rs200309328 |
MSV3d | rs200309328 |
GWAS Ctlg | rs200309328 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs200309328(A;A) rs200309328(C;C) |
Alt | rs200309328(A;A) rs200309328(C;C) |
Reference | Rs200309328(G;G) |
Significance | Pathogenic |
Disease | Marfan syndrome not provided Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome not provided Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000015.9:g.48704912G>A; NC_000015.9:g.48704912G>C |
CLNSRC | |
CLNACC | RCV000150695.1, RCV000181617.3, RCV000252245.1, |