rs398122833
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 |
Make rs398122833(G;T) |
Make rs398122833(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48412568 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122833 |
dbSNP (classic) | rs398122833 |
ClinGen | rs398122833 |
ebi | rs398122833 |
HLI | rs398122833 |
Exac | rs398122833 |
Gnomad | rs398122833 |
Varsome | rs398122833 |
LitVar | rs398122833 |
Map | rs398122833 |
PheGenI | rs398122833 |
Biobank | rs398122833 |
1000 genomes | rs398122833 |
hgdp | rs398122833 |
ensembl | rs398122833 |
geneview | rs398122833 |
scholar | rs398122833 |
rs398122833 | |
pharmgkb | rs398122833 |
gwascentral | rs398122833 |
openSNP | rs398122833 |
23andMe | rs398122833 |
SNPshot | rs398122833 |
SNPdbe | rs398122833 |
MSV3d | rs398122833 |
GWAS Ctlg | rs398122833 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs398122833(A;A) rs398122833(T;T) |
Alt | rs398122833(A;A) rs398122833(T;T) |
Reference | Rs398122833(G;G) |
Significance | Pathogenic |
Disease | Marfan lipodystrophy syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan lipodystrophy syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48704765C>A; NC_000015.9:g.48704765C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033243.28, RCV000210934.1, |