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rs1800450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.6 mannose binding deficiency but of low clinical importance
(A;G) 1.1 carrier of mannose binding deficiency but of low clinical importance
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome10
Position52771475
GeneMBL2
is asnp
is mentioned by
dbSNPrs1800450
ebirs1800450
HLIrs1800450
Exacrs1800450
Varsomers1800450
Maprs1800450
PheGenIrs1800450
hapmaprs1800450
1000 genomesrs1800450
hgdprs1800450
ensemblrs1800450
gopubmedrs1800450
geneviewrs1800450
scholarrs1800450
googlers1800450
pharmgkbrs1800450
gwascentralrs1800450
openSNPrs1800450
23andMers1800450
23andMe allrs1800450
SNP Nexus

SNPshotrs1800450
SNPdbers1800450
MSV3drs1800450
GWAS Ctlgrs1800450
GMAF0.1212
Max Magnitude1.6
? (A;A) (A;G) (G;G) 28
[PMID 17898783] pulmonary morbidity in preterm infants.

related to non-Hodgkin's lymphoma

OMIM154545
DescMANNOSE-BINDING PROTEIN DEFICIENCY
Variant0001
Relatedalso
[PMID 20522590OA-icon.png] Functional Variants in MBL2 are Associated with Type 2 diabetes and Pre-diabetic Traits in Pima Indians and the Old Order Amish


[PMID 22340886] [Association between mannose-binding-lectin gene and type 2 diabetic patients in Chinese population living in the northern areas of China]


[PMID 22363494OA-icon.png] Mannose-Binding Lectin 2 Polymorphisms Do Not Influence Frequency or Type of Infection in Adults with Chemotherapy Induced Neutropaenia


ClinVar
Risk rs1800450(A;A)
Alt rs1800450(A;A)
Reference rs1800450(G;G)
Significance Pathogenic
Disease Mannose-binding protein deficiency
Variation info
Gene MBL2
CLNDBN Mannose-binding protein deficiency
Reversed 1
HGVS NC_000010.10:g.54531235C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015424.22,



[PMID 17366837OA-icon.png] Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.

[PMID 18091754OA-icon.png] Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10.

[PMID 18182569OA-icon.png] Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.

[PMID 18396467OA-icon.png] Genetic variation and haplotype structures of innate immunity genes in eastern India.

[PMID 18452612OA-icon.png] MBL2 and hepatitis C virus infection among injection drug users.

[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

[PMID 19366862OA-icon.png] Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy.

[PMID 19432958OA-icon.png] Haplotype specific-sequencing reveals MBL2 association with asymptomatic Plasmodium falciparum infection.

[PMID 20041166OA-icon.png] Common genetic variation and the control of HIV-1 in humans.

[PMID 20042521OA-icon.png] Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome.

[PMID 20196868OA-icon.png] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.

[PMID 20465856OA-icon.png] Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes.

[PMID 21211797] Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin.

[PMID 22183303] The association between the mannose-binding lectin codon 54 polymorphism and systemic lupus erythematosus: a meta-analysis update.

[PMID 22417159] DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.


[PMID 22994203] MBL2 gene variation affecting serum MBL is associated with prosthetic joint infection in Czech patients after total joint arthroplasty


GET Evidence
MBL2-G54D
aa_change Gly54Asp
aa_change_short G54D
impact pathogenic
qualified_impact Low clinical importance, Likely pathogenic
overall_frequency 0.103923
summary This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).



[PMID 22820623] Association of MIF-173G/C and MBL2 codon 54 gene polymorphisms with rheumatoid arthritis: a meta-analysis.


[PMID 22848725OA-icon.png] Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.


[PMID 23251429OA-icon.png] Inflammation and immune-related candidate gene associations with acute lung injury susceptibility and severity: a validation study.


[PMID 24952212] Age-dependent Association of Mannose-Binding Lectin Polymorphisms with the Development of Pulmonary Tuberculosis in Viet Nam


[PMID 25902400] Polymorphisms in the inflammatory pathway genes and the risk of preeclampsia in Sinhalese women