|| common in clinvar
|?|| (A;A) (A;G) (G;G) ||28|
is a SNP in the transforming growth factor, beta receptor I TGFBR1
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 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).