rs587782977
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587782977(A;A) |
Make rs587782977(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 67165052 |
Gene | SMAD3 |
is a | snp |
is | mentioned by |
dbSNP | rs587782977 |
dbSNP (classic) | rs587782977 |
ClinGen | rs587782977 |
ebi | rs587782977 |
HLI | rs587782977 |
Exac | rs587782977 |
Gnomad | rs587782977 |
Varsome | rs587782977 |
LitVar | rs587782977 |
Map | rs587782977 |
PheGenI | rs587782977 |
Biobank | rs587782977 |
1000 genomes | rs587782977 |
hgdp | rs587782977 |
ensembl | rs587782977 |
geneview | rs587782977 |
scholar | rs587782977 |
rs587782977 | |
pharmgkb | rs587782977 |
gwascentral | rs587782977 |
openSNP | rs587782977 |
23andMe | rs587782977 |
SNPshot | rs587782977 |
SNPdbe | rs587782977 |
MSV3d | rs587782977 |
GWAS Ctlg | rs587782977 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587782977(A;A) |
Alt | rs587782977(A;A) |
Reference | Rs587782977(G;G) |
Significance | Probable-Pathogenic |
Disease | Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | SMAD3 |
CLNDBN | Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000015.9:g.67457390G>A |
CLNSRC | |
CLNACC | RCV000143952.1, RCV000230825.1, |