rs6957
Orientation | minus |
Stabilized | minus |
Make rs6957(A;A) |
Make rs6957(A;G) |
Make rs6957(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41324701 |
Gene | CCDC97 |
is a | snp |
is | mentioned by |
dbSNP | rs6957 |
dbSNP (classic) | rs6957 |
ClinGen | rs6957 |
ebi | rs6957 |
HLI | rs6957 |
Exac | rs6957 |
Gnomad | rs6957 |
Varsome | rs6957 |
LitVar | rs6957 |
Map | rs6957 |
PheGenI | rs6957 |
Biobank | rs6957 |
1000 genomes | rs6957 |
hgdp | rs6957 |
ensembl | rs6957 |
geneview | rs6957 |
scholar | rs6957 |
rs6957 | |
pharmgkb | rs6957 |
gwascentral | rs6957 |
openSNP | rs6957 |
23andMe | rs6957 |
SNPshot | rs6957 |
SNPdbe | rs6957 |
MSV3d | rs6957 |
GWAS Ctlg | rs6957 |
GMAF | 0.2511 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 18281501] colorectal neoplasia
271 colorectal adenoma cases and 544 controls, and 535 colorectal adenocarcinoma cases and 656 controls.
- rs6957(A) was associated with higher serum TGFbeta-1 [means (in ng/mL) and 95% confidence interval (95% CI) for AA or AG, 32.6 (30.6-34.7); GG, 29.0 (25.1-32.9); P(difference) = 0.05]
- rs11466345(G;G) had a statistically significantly lower risk of adenocarcinoma [AG versus AA: odds ratio (OR), 0.9 (95% CI, 0.7-1.2); GG versus AA: OR, 0.4 (95% CI, 0.2-0.7); P(trend) = 0.01].
- The haplotype carrying both variants was also statistically significantly associated with a reduced risk of adenocarcinoma (OR, 0.3; 95% CI, 0.1-0.8)
{{PMID Auto |PMID=19258388 |Title=Genetic variation in the transforming growth factor-{beta}1 gene is associated with susceptibility to IgA nephropathy. |OA=1 }}
[PMID 15175276] The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD).
[PMID 16780585] Decorin and TGF-beta1 polymorphisms and development of COPD in a general population.
[PMID 18670143] The association of transforming growth factor beta 1 gene polymorphisms with the emphysema phenotype of COPD in Japanese.
[PMID 19096005] Variants in TGFB1, dust mite exposure, and disease severity in children with asthma.
[PMID 20479942] Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
[PMID 21320324] The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.
[PMID 21556788] Lack of association between the TGF-beta(1) gene and development of COPD in Asians: a case-control study and meta-analysis.
[PMID 23267696] Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study