rs868
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs868(A;G) |
Make rs868(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 99149374 |
Gene | TGFBR1 |
is a | snp |
is | mentioned by |
dbSNP | rs868 |
dbSNP (classic) | rs868 |
ClinGen | rs868 |
ebi | rs868 |
HLI | rs868 |
Exac | rs868 |
Gnomad | rs868 |
Varsome | rs868 |
LitVar | rs868 |
Map | rs868 |
PheGenI | rs868 |
Biobank | rs868 |
1000 genomes | rs868 |
hgdp | rs868 |
ensembl | rs868 |
geneview | rs868 |
scholar | rs868 |
rs868 | |
pharmgkb | rs868 |
gwascentral | rs868 |
openSNP | rs868 |
23andMe | rs868 |
SNPshot | rs868 |
SNPdbe | rs868 |
MSV3d | rs868 |
GWAS Ctlg | rs868 |
GMAF | 0.1414 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
rs868 is a SNP in the transforming growth factor, beta receptor I TGFBR1 gene.
A total of 1,157 Spanish cases with urothelial cell carcinoma of the bladder and 1,157 matched controls were analyzed for TGFBR1 SNP associations, and among patients with muscle-invasive bladder cancer tumors, a significant association between rs868 and disease-specific mortality was found, with an allele dosage effect (p-trend = 0.003). [PMID 19004027]
[PMID 19299629] Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.
[PMID 19356949] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.
[PMID 19509225] Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients.
[PMID 27234654] Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).
ClinVar | |
---|---|
Risk | rs868(G;G) |
Alt | rs868(G;G) |
Reference | Rs868(A;A) |
Significance | Non-pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Loeys-Dietz syndrome 1 |
Variation | info |
Gene | TGFBR1 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Loeys-Dietz syndrome 1 |
Reversed | 0 |
HGVS | NC_000009.11:g.101911656A>G |
CLNSRC | |
CLNACC | RCV000312076.1, RCV000366670.1, RCV000406058.1, |