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rs4950928

From SNPedia

Orientationplus
Stabilizedplus
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.
ReferenceGRCh38 38.1/141
Chromosome1
Position203186754
GeneCHI3L1
is asnp
is mentioned by
dbSNPrs4950928
ebirs4950928
HLIrs4950928
Exacrs4950928
Varsomers4950928
Maprs4950928
PheGenIrs4950928
hapmaprs4950928
1000 genomesrs4950928
hgdprs4950928
ensemblrs4950928
gopubmedrs4950928
geneviewrs4950928
scholarrs4950928
googlers4950928
pharmgkbrs4950928
gwascentralrs4950928
openSNPrs4950928
23andMers4950928
23andMe allrs4950928
SNP Nexus

SNPshotrs4950928
SNPdbers4950928
MSV3drs4950928
GWAS Ctlgrs4950928
GMAF0.208
Max Magnitude2
? (C;C) (C;G) (G;G) 28
[PMID 17160890OA-icon.png] 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 19568425OA-icon.png] 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.

Neighborrs10399805
Distance116
GWAS
SNP rs4950928
PubMedID [PMID 18403759OA-icon.png]
Condition YKL-40 levels
Gene CHI3L1
Risk Allele G
pValue 1.00E-013
OR 0.3
95% CI NR) ng/ml decreas


[PMID 19421404OA-icon.png] Variation in CHI3LI in relation to type 2 diabetes and related quantitative traits

OMIM611960
DescASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7
Variant
Relatedalso
OMIM181500
DescSCHIZOPHRENIA; SCZD
Variant
Relatedalso
OMIM601525
DescCHITINASE 3-LIKE 1; CHI3L1
Variant
Relatedalso


[PMID 20051317] The chitinase 3-like 1 gene and schizophrenia: Evidence from a multi-center case-control study and meta-analysis

OMIM601525
Desc
Variant0001
Relatedalso
[PMID 21714862OA-icon.png] 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 22103814OA-icon.png] 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 19264973OA-icon.png] Assessing the reproducibility of asthma candidate gene associations, using genome-wide data.


[PMID 19336781OA-icon.png] 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.


GET Evidence
rs4950928
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.766129
summary



[PMID 23190377] Association of CHI3L1 in African-Americans with Prior History of Asthma Exacerbations and Stress


[PMID 23279705OA-icon.png] 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 25203433OA-icon.png] Correlation of Chitinase 3-Like 1 Single Nucleotide Polymorphisms and Haplotypes with Uterine Cervical Cancer in Taiwanese Women


[PMID 25486056OA-icon.png] 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(C;C)
Alt rs4950928(C;C)
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,