rs137854479
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
Make rs137854479(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48497298 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs137854479 |
dbSNP (classic) | rs137854479 |
ClinGen | rs137854479 |
ebi | rs137854479 |
HLI | rs137854479 |
Exac | rs137854479 |
Gnomad | rs137854479 |
Varsome | rs137854479 |
LitVar | rs137854479 |
Map | rs137854479 |
PheGenI | rs137854479 |
Biobank | rs137854479 |
1000 genomes | rs137854479 |
hgdp | rs137854479 |
ensembl | rs137854479 |
geneview | rs137854479 |
scholar | rs137854479 |
rs137854479 | |
pharmgkb | rs137854479 |
gwascentral | rs137854479 |
openSNP | rs137854479 |
23andMe | rs137854479 |
SNPshot | rs137854479 |
SNPdbe | rs137854479 |
MSV3d | rs137854479 |
GWAS Ctlg | rs137854479 |
Merged from | Rs28929500 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs137854479(G;G) |
Alt | rs137854479(G;G) |
Reference | Rs137854479(A;A) |
Significance | Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48789495T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017923.28, |