rs780788248
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs780788248(A;A) |
Make rs780788248(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 189006352 |
Gene | COL3A1 |
is a | snp |
is | mentioned by |
dbSNP | rs780788248 |
dbSNP (classic) | rs780788248 |
ClinGen | rs780788248 |
ebi | rs780788248 |
HLI | rs780788248 |
Exac | rs780788248 |
Gnomad | rs780788248 |
Varsome | rs780788248 |
LitVar | rs780788248 |
Map | rs780788248 |
PheGenI | rs780788248 |
Biobank | rs780788248 |
1000 genomes | rs780788248 |
hgdp | rs780788248 |
ensembl | rs780788248 |
geneview | rs780788248 |
scholar | rs780788248 |
rs780788248 | |
pharmgkb | rs780788248 |
gwascentral | rs780788248 |
openSNP | rs780788248 |
23andMe | rs780788248 |
SNPshot | rs780788248 |
SNPdbe | rs780788248 |
MSV3d | rs780788248 |
GWAS Ctlg | rs780788248 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780788248(A;A) |
Alt | rs780788248(A;A) |
Reference | Rs780788248(G;G) |
Significance | Probable-Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | COL3A1 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000002.11:g.189871078G>A |
CLNSRC | |
CLNACC | RCV000181105.1, |