rs878854610
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 7 | Loeys-Dietz Syndrome |
Make rs878854610(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 30674121 |
Gene | TGFBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs878854610 |
dbSNP (classic) | rs878854610 |
ClinGen | rs878854610 |
ebi | rs878854610 |
HLI | rs878854610 |
Exac | rs878854610 |
Gnomad | rs878854610 |
Varsome | rs878854610 |
LitVar | rs878854610 |
Map | rs878854610 |
PheGenI | rs878854610 |
Biobank | rs878854610 |
1000 genomes | rs878854610 |
hgdp | rs878854610 |
ensembl | rs878854610 |
geneview | rs878854610 |
scholar | rs878854610 |
rs878854610 | |
pharmgkb | rs878854610 |
gwascentral | rs878854610 |
openSNP | rs878854610 |
23andMe | rs878854610 |
SNPshot | rs878854610 |
SNPdbe | rs878854610 |
MSV3d | rs878854610 |
GWAS Ctlg | rs878854610 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs878854610(G;G) rs878854610(T;T) |
Alt | rs878854610(G;G) rs878854610(T;T) |
Reference | Rs878854610(A;A) |
Significance | Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | TGFBR2 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000003.11:g.30715613A>G |
CLNSRC | |
CLNACC | RCV000234122.1, |