rs11466532
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs11466532(C;T) |
Make rs11466532(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 30692953 |
Gene | TGFBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs11466532 |
dbSNP (classic) | rs11466532 |
ClinGen | rs11466532 |
ebi | rs11466532 |
HLI | rs11466532 |
Exac | rs11466532 |
Gnomad | rs11466532 |
Varsome | rs11466532 |
LitVar | rs11466532 |
Map | rs11466532 |
PheGenI | rs11466532 |
Biobank | rs11466532 |
1000 genomes | rs11466532 |
hgdp | rs11466532 |
ensembl | rs11466532 |
geneview | rs11466532 |
scholar | rs11466532 |
rs11466532 | |
pharmgkb | rs11466532 |
gwascentral | rs11466532 |
openSNP | rs11466532 |
23andMe | rs11466532 |
SNPshot | rs11466532 |
SNPdbe | rs11466532 |
MSV3d | rs11466532 |
GWAS Ctlg | rs11466532 |
GMAF | 0.007346 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 22336710] Modeling SNP mediated differential targeting of homologous 3'UTR by microRNA
ClinVar | |
---|---|
Risk | rs11466532(T;T) |
Alt | rs11466532(T;T) |
Reference | Rs11466532(C;C) |
Significance | Probable-non-pathogenic |
Disease | Marfan syndrome Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome |
Variation | info |
Gene | TGFBR2 |
CLNDBN | Marfan syndrome Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.30734445C>T |
CLNSRC | |
CLNACC | RCV000289180.1, RCV000328103.1, RCV000384929.1, |