rs4950928
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1.9 | Normal (higher) risk of Asthma. |
| (C;G) | 2 | Half the risk (maybe) of Asthma. |
| (G;C) | 2 | Half the risk (maybe) of Asthma. |
| (G;G) | 2 | Half the risk (maybe) of Asthma. |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 203186754 |
| Gene | CHI3L1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4950928 |
| dbSNP (classic) | rs4950928 |
| ClinGen | rs4950928 |
| ebi | rs4950928 |
| HLI | rs4950928 |
| Exac | rs4950928 |
| Gnomad | rs4950928 |
| Varsome | rs4950928 |
| LitVar | rs4950928 |
| Map | rs4950928 |
| PheGenI | rs4950928 |
| Biobank | rs4950928 |
| 1000 genomes | rs4950928 |
| hgdp | rs4950928 |
| ensembl | rs4950928 |
| geneview | rs4950928 |
| scholar | rs4950928 |
| rs4950928 | |
| pharmgkb | rs4950928 |
| gwascentral | rs4950928 |
| openSNP | rs4950928 |
| 23andMe | rs4950928 |
| SNPshot | rs4950928 |
| SNPdbe | rs4950928 |
| MSV3d | rs4950928 |
| GWAS Ctlg | rs4950928 |
| GMAF | 0.208 |
| Max Magnitude | 2 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 17160890
] rs4950928 in CHI3L1 is likely to play roles in the predisposition to schizophrenia.
[PMID 18767121] An attempt to repeat the association between rs4950928 and risk for schizophrenia in an ethnically identical population (Japanese) as well as a new population (Han Chinese) failed to show any significant association.
[PMID 19568425] In contrast to previous studies, in this study of 6514 Danish adults the rs4950928(G) allele - rather than the (C) allele - was found to be associated with asthma.
| GWAS | |
|---|---|
| SNP | rs4950928 |
| PubMedID | [PMID 18403759]
|
| Condition | YKL-40 levels |
| Gene | CHI3L1 |
| Risk Allele | G |
| pValue | 1.00E-013 |
| OR | 0.3 |
| 95% CI | NR) ng/ml decreas |
[PMID 19421404] Variation in CHI3LI in relation to type 2 diabetes and related quantitative traits
[PMID 20051317] The chitinase 3-like 1 gene and schizophrenia: Evidence from a multi-center case-control study and meta-analysis
[PMID 21714862] Promoter polymorphisms in the chitinase 3-like 1 gene influence the serum concentration of YKL-40 in Danish patients with rheumatoid arthritis and in healthy subjects
[PMID 22103814] YKL-40 genetic polymorphisms and the risk of liver disease progression in patients with advanced fibrosis due to chronic hepatitis C
[PMID 22366530] A promoter variant in the Chitinase 3-Like 1 gene is associated with serum YKL-40 level and personality trait
[PMID 22183936] Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis.
[PMID 19264973] Assessing the reproducibility of asthma candidate gene associations, using genome-wide data.
[PMID 19336781] Molecular differentiation of schizoaffective disorder from schizophrenia using BDNF haplotypes.
[PMID 20300754] Lack of evidence for association of two functional SNPs of CHI3L1 gene (HC-gp39) with rheumatoid arthritis.
[PMID 21257319] Genetic polymorphisms in chitinase 3-like 1 (CHI3L1) are associated with circulating YKL-40 levels, but not with angiographic coronary artery disease in a Chinese population.
[PMID 21530869] The CHI3L1 rs4950928 polymorphism is associated with asthma-related hospital admissions in children and young adults.
[PMID 23190377] Association of CHI3L1 in African-Americans with Prior History of Asthma Exacerbations and Stress
[PMID 23279705] A polymorphism associated with increased levels of YKL-40 and the risk of early onset of lone atrial fibrillation
[PMID 22989351] YKL-40-gene polymorphism affects acute cellular rejection and fibrosis progression after transplantation for hepatitis C virus-induced liver disease.
[PMID 23628340] The chitinase-like protein YKL-40: a possible biomarker of inflammation and airway remodeling in severe pediatric asthma.
[PMID 25203433] Correlation of Chitinase 3-Like 1 Single Nucleotide Polymorphisms and Haplotypes with Uterine Cervical Cancer in Taiwanese Women
[PMID 25486056] Circulating YKL-40 level, but not CHI3L1 gene variants, is associated with atherosclerosis-related quantitative traits and the risk of peripheral artery disease
[PMID 25592985] Genetic variation in chitinase 3-like 1 (CHI3L1) contributes to asthma severity and airway expression of YKL-40
[PMID 26672955] YKL-40 and genetic status of CHI3L1 in a large group of asthmatics.
| ClinVar | |
|---|---|
| Risk | rs4950928(A;A) Rs4950928(C;C) rs4950928(T;T) |
| Alt | rs4950928(A;A) Rs4950928(C;C) rs4950928(T;T) |
| Reference | Rs4950928(G;G) |
| Significance | Other |
| Disease | Asthma-related traits |
| Variation | info |
| Gene | CHI3L1 |
| CLNDBN | Asthma-related traits, susceptibility to, 7 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.203155882G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008580.2, |
[PMID 30223258] Association of the Polymorphisms and Plasma Level of CHI3L1 with Alzheimer's Disease in the Chinese Han Population: A Case-Control Study.
[PMID 30309792] Association of SNP-SNP Interactions Between RANKL, OPG, CHI3L1, and VDR Genes With Breast Cancer Risk in Egyptian Women.
[PMID 31295039] A genetic variation in CHI3L1 is associated with bronchial asthma.
[PMID 33277205] YKL-40 as a clinical biomarker in adult patients with CF: Implications of a CHI3L1 single nucleotide polymorphism in disease severity.
[PMID 33280245] Association of CHI3L1 gene variants with YKL-40 levels and hypertension incidence: A population-based nested case-control study in China.
