rs112911555
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs112911555(C;T) |
Make rs112911555(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 15 |
Position | 48490072 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs112911555 |
dbSNP (classic) | rs112911555 |
ClinGen | rs112911555 |
ebi | rs112911555 |
HLI | rs112911555 |
Exac | rs112911555 |
Gnomad | rs112911555 |
Varsome | rs112911555 |
LitVar | rs112911555 |
Map | rs112911555 |
PheGenI | rs112911555 |
Biobank | rs112911555 |
1000 genomes | rs112911555 |
hgdp | rs112911555 |
ensembl | rs112911555 |
geneview | rs112911555 |
scholar | rs112911555 |
rs112911555 | |
pharmgkb | rs112911555 |
gwascentral | rs112911555 |
openSNP | rs112911555 |
23andMe | rs112911555 |
SNPshot | rs112911555 |
SNPdbe | rs112911555 |
MSV3d | rs112911555 |
GWAS Ctlg | rs112911555 |
Merged from | Rs794728198 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112911555(T;T) |
Alt | rs112911555(T;T) |
Reference | Rs112911555(C;C) |
Significance | Pathogenic |
Disease | not provided Marfan syndrome Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided Marfan syndrome Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000015.9:g.48782269C>T |
CLNSRC | |
CLNACC | RCV000181469.1, RCV000208533.1, RCV000253911.1, |