rs760079636
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs760079636(A;A) |
Make rs760079636(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 99142664 |
Gene | TGFBR1 |
is a | snp |
is | mentioned by |
dbSNP | rs760079636 |
dbSNP (classic) | rs760079636 |
ClinGen | rs760079636 |
ebi | rs760079636 |
HLI | rs760079636 |
Exac | rs760079636 |
Gnomad | rs760079636 |
Varsome | rs760079636 |
LitVar | rs760079636 |
Map | rs760079636 |
PheGenI | rs760079636 |
Biobank | rs760079636 |
1000 genomes | rs760079636 |
hgdp | rs760079636 |
ensembl | rs760079636 |
geneview | rs760079636 |
scholar | rs760079636 |
rs760079636 | |
pharmgkb | rs760079636 |
gwascentral | rs760079636 |
openSNP | rs760079636 |
23andMe | rs760079636 |
SNPshot | rs760079636 |
SNPdbe | rs760079636 |
MSV3d | rs760079636 |
GWAS Ctlg | rs760079636 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760079636(A;A) |
Alt | rs760079636(A;A) |
Reference | Rs760079636(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | TGFBR1 |
CLNDBN | not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000009.11:g.101904946G>A |
CLNSRC | |
CLNACC | RCV000199247.2, RCV000208245.1, RCV000246328.1, |