rs111426349
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 7 | Loeys-Dietz Syndrome |
Make rs111426349(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 99149252 |
Gene | TGFBR1 |
is a | snp |
is | mentioned by |
dbSNP | rs111426349 |
dbSNP (classic) | rs111426349 |
ClinGen | rs111426349 |
ebi | rs111426349 |
HLI | rs111426349 |
Exac | rs111426349 |
Gnomad | rs111426349 |
Varsome | rs111426349 |
LitVar | rs111426349 |
Map | rs111426349 |
PheGenI | rs111426349 |
Biobank | rs111426349 |
1000 genomes | rs111426349 |
hgdp | rs111426349 |
ensembl | rs111426349 |
geneview | rs111426349 |
scholar | rs111426349 |
rs111426349 | |
pharmgkb | rs111426349 |
gwascentral | rs111426349 |
openSNP | rs111426349 |
23andMe | rs111426349 |
SNPshot | rs111426349 |
SNPdbe | rs111426349 |
MSV3d | rs111426349 |
GWAS Ctlg | rs111426349 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs111426349(T;T) |
Alt | rs111426349(T;T) |
Reference | Rs111426349(C;C) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 1 not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | TGFBR1 |
CLNDBN | Loeys-Dietz syndrome 1 not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000009.11:g.101911534C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013352.18, RCV000200764.3, RCV000211856.1, RCV000251089.1, |