rs763449629
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs763449629(C;G) |
Make rs763449629(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48474369 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs763449629 |
dbSNP (classic) | rs763449629 |
ClinGen | rs763449629 |
ebi | rs763449629 |
HLI | rs763449629 |
Exac | rs763449629 |
Gnomad | rs763449629 |
Varsome | rs763449629 |
LitVar | rs763449629 |
Map | rs763449629 |
PheGenI | rs763449629 |
Biobank | rs763449629 |
1000 genomes | rs763449629 |
hgdp | rs763449629 |
ensembl | rs763449629 |
geneview | rs763449629 |
scholar | rs763449629 |
rs763449629 | |
pharmgkb | rs763449629 |
gwascentral | rs763449629 |
openSNP | rs763449629 |
23andMe | rs763449629 |
SNPshot | rs763449629 |
SNPdbe | rs763449629 |
MSV3d | rs763449629 |
GWAS Ctlg | rs763449629 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763449629(G;G) rs763449629(T;T) |
Alt | rs763449629(G;G) rs763449629(T;T) |
Reference | Rs763449629(C;C) |
Significance | Probable-Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.48766566C>G; NC_000015.9:g.48766566C>T |
CLNSRC | |
CLNACC | RCV000241769.1, RCV000181508.2, |