rs878853676
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.5 | Marfan syndrome mutation |
(C;G) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
(G;G) | 0 | common in clinvar |
Make rs878853676(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 15 |
Position | 48505069 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs878853676 |
dbSNP (classic) | rs878853676 |
ClinGen | rs878853676 |
ebi | rs878853676 |
HLI | rs878853676 |
Exac | rs878853676 |
Gnomad | rs878853676 |
Varsome | rs878853676 |
LitVar | rs878853676 |
Map | rs878853676 |
PheGenI | rs878853676 |
Biobank | rs878853676 |
1000 genomes | rs878853676 |
hgdp | rs878853676 |
ensembl | rs878853676 |
geneview | rs878853676 |
scholar | rs878853676 |
rs878853676 | |
pharmgkb | rs878853676 |
gwascentral | rs878853676 |
openSNP | rs878853676 |
23andMe | rs878853676 |
SNPshot | rs878853676 |
SNPdbe | rs878853676 |
MSV3d | rs878853676 |
GWAS Ctlg | rs878853676 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs878853676(A;A) |
Alt | rs878853676(A;A) |
Reference | Rs878853676(G;G) |
Significance | Probable-Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48797266C>T |
CLNSRC | |
CLNACC | RCV000229819.1, |