rs727503477
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 7 | Loeys-Dietz Syndrome |
(G;G) | 0 | common in clinvar |
Make rs727503477(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 30691486 |
Gene | TGFBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs727503477 |
dbSNP (classic) | rs727503477 |
ClinGen | rs727503477 |
ebi | rs727503477 |
HLI | rs727503477 |
Exac | rs727503477 |
Gnomad | rs727503477 |
Varsome | rs727503477 |
LitVar | rs727503477 |
Map | rs727503477 |
PheGenI | rs727503477 |
Biobank | rs727503477 |
1000 genomes | rs727503477 |
hgdp | rs727503477 |
ensembl | rs727503477 |
geneview | rs727503477 |
scholar | rs727503477 |
rs727503477 | |
pharmgkb | rs727503477 |
gwascentral | rs727503477 |
openSNP | rs727503477 |
23andMe | rs727503477 |
SNPshot | rs727503477 |
SNPdbe | rs727503477 |
MSV3d | rs727503477 |
GWAS Ctlg | rs727503477 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs727503477(A;A) |
Alt | rs727503477(A;A) |
Reference | Rs727503477(G;G) |
Significance | Probable-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.30732978G>A |
CLNSRC | |
CLNACC | RCV000152013.1, |