rs370161725
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370161725(C;C) |
Make rs370161725(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48470656 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs370161725 |
dbSNP (classic) | rs370161725 |
ClinGen | rs370161725 |
ebi | rs370161725 |
HLI | rs370161725 |
Exac | rs370161725 |
Gnomad | rs370161725 |
Varsome | rs370161725 |
LitVar | rs370161725 |
Map | rs370161725 |
PheGenI | rs370161725 |
Biobank | rs370161725 |
1000 genomes | rs370161725 |
hgdp | rs370161725 |
ensembl | rs370161725 |
geneview | rs370161725 |
scholar | rs370161725 |
rs370161725 | |
pharmgkb | rs370161725 |
gwascentral | rs370161725 |
openSNP | rs370161725 |
23andMe | rs370161725 |
SNPshot | rs370161725 |
SNPdbe | rs370161725 |
MSV3d | rs370161725 |
GWAS Ctlg | rs370161725 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370161725(C;C) |
Alt | rs370161725(C;C) |
Reference | Rs370161725(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Marfan syndrome Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | FBN1 |
CLNDBN | not specified Marfan syndrome Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000015.9:g.48762853G>C |
CLNSRC | |
CLNACC | RCV000181520.3, RCV000465923.1, |