rs863223816
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863223816(A;G) |
Make rs863223816(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 99142550 |
Gene | TGFBR1 |
is a | snp |
is | mentioned by |
dbSNP | rs863223816 |
dbSNP (classic) | rs863223816 |
ClinGen | rs863223816 |
ebi | rs863223816 |
HLI | rs863223816 |
Exac | rs863223816 |
Gnomad | rs863223816 |
Varsome | rs863223816 |
LitVar | rs863223816 |
Map | rs863223816 |
PheGenI | rs863223816 |
Biobank | rs863223816 |
1000 genomes | rs863223816 |
hgdp | rs863223816 |
ensembl | rs863223816 |
geneview | rs863223816 |
scholar | rs863223816 |
rs863223816 | |
pharmgkb | rs863223816 |
gwascentral | rs863223816 |
openSNP | rs863223816 |
23andMe | rs863223816 |
SNPshot | rs863223816 |
SNPdbe | rs863223816 |
MSV3d | rs863223816 |
GWAS Ctlg | rs863223816 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223816(C;C) rs863223816(G;G) |
Alt | rs863223816(C;C) rs863223816(G;G) |
Reference | Rs863223816(A;A) |
Significance | Probable-Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection not provided |
Variation | info |
Gene | TGFBR1 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.101904832A>C; NC_000009.11:g.101904832A>G |
CLNSRC | |
CLNACC | RCV000466576.1, RCV000199389.1, |