rs111984349
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111984349(C;T) |
Make rs111984349(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 15 |
Position | 48415759 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs111984349 |
dbSNP (classic) | rs111984349 |
ClinGen | rs111984349 |
ebi | rs111984349 |
HLI | rs111984349 |
Exac | rs111984349 |
Gnomad | rs111984349 |
Varsome | rs111984349 |
LitVar | rs111984349 |
Map | rs111984349 |
PheGenI | rs111984349 |
Biobank | rs111984349 |
1000 genomes | rs111984349 |
hgdp | rs111984349 |
ensembl | rs111984349 |
geneview | rs111984349 |
scholar | rs111984349 |
rs111984349 | |
pharmgkb | rs111984349 |
gwascentral | rs111984349 |
openSNP | rs111984349 |
23andMe | rs111984349 |
SNPshot | rs111984349 |
SNPdbe | rs111984349 |
MSV3d | rs111984349 |
GWAS Ctlg | rs111984349 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111984349(T;T) |
Alt | rs111984349(T;T) |
Reference | Rs111984349(C;C) |
Significance | Probable-Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | FBN1 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000015.9:g.48707956C>T |
CLNSRC | |
CLNACC | RCV000253245.1, |