rs6918698
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal risk | |
| (C;G) | ~normal risk | |
| (G;G) | 2.2x higher systemic sclerosis risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 131952117 |
| Gene | CTGF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6918698 |
| dbSNP (classic) | rs6918698 |
| ClinGen | rs6918698 |
| ebi | rs6918698 |
| HLI | rs6918698 |
| Exac | rs6918698 |
| Gnomad | rs6918698 |
| Varsome | rs6918698 |
| LitVar | rs6918698 |
| Map | rs6918698 |
| PheGenI | rs6918698 |
| Biobank | rs6918698 |
| 1000 genomes | rs6918698 |
| hgdp | rs6918698 |
| ensembl | rs6918698 |
| geneview | rs6918698 |
| scholar | rs6918698 |
| rs6918698 | |
| pharmgkb | rs6918698 |
| gwascentral | rs6918698 |
| openSNP | rs6918698 |
| 23andMe | rs6918698 |
| SNPshot | rs6918698 |
| SNPdbe | rs6918698 |
| MSV3d | rs6918698 |
| GWAS Ctlg | rs6918698 |
| GMAF | 0.4986 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs6918698, a common SNP located in the promoter of the CTGF gene, has been linked to increased risk for systemic sclerosis (scleroderma) based on a study of 500 Caucasian patients. The odds ratio is 2.2 for (G;G) homozygotes (p<0.001). The reason that the (C) allele appears to be protective is thought to be due to decreased CTGF activity.[PMID 17881752]
[PMID 19243500] Validation of connective tissue growth factor (CTGF/CCN2) and its gene polymorphisms as noninvasive biomarkers for the assessment of liver fibrosis
[PMID 22533709
] The CTGF gene -945 G/C polymorphism is not associated with cardiac or kidney complications in subjects with type 2 diabetes
[PMID 19054818] Association study of a polymorphism of the CTGF gene and susceptibility to systemic sclerosis in the Japanese population.
[PMID 19822645] Variants of CTGF are associated with hepatic fibrosis in Chinese, Sudanese, and Brazilians infected with schistosomes.
[PMID 22503846] Connective tissue growth factor (CTGF/CCN2): A protagonist in cardiac allograft vasculopathy development?
[PMID 22554650] Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil
[PMID 24121259] The Influence of CTGF Single-Nucleotide Polymorphisms on Outcomes in Crohn's Disease
[PMID 25030555] Association between Gene Polymorphisms of Connective Tissue Growth Factor and the Progression of Chronic Liver Disease Associated with Hepatitis C
[PMID 25502877] Investigating the association between polymorphisms in connective tissue growth factor and susceptibility to colon carcinoma
