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rs1800451

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 38.1/142
Chromosome10
Position52771466
GeneMBL2
is asnp
is mentioned by
dbSNPrs1800451
ebirs1800451
HLIrs1800451
Exacrs1800451
Varsomers1800451
Maprs1800451
PheGenIrs1800451
hapmaprs1800451
1000 genomesrs1800451
hgdprs1800451
ensemblrs1800451
gopubmedrs1800451
geneviewrs1800451
scholarrs1800451
googlers1800451
pharmgkbrs1800451
gwascentralrs1800451
openSNPrs1800451
23andMers1800451
23andMe allrs1800451
SNP Nexus

SNPshotrs1800451
SNPdbers1800451
MSV3drs1800451
GWAS Ctlgrs1800451
GMAF0.05464
Max Magnitude1.6
? (A;A) (A;G) (G;G) 28
OMIM154545
Desc
Variant0002
Relatedalso
[PMID 22340886] [Association between mannose-binding-lectin gene and type 2 diabetic patients in Chinese population living in the northern areas of China]


ClinVar
Risk Rs1800451(A;A)
Alt Rs1800451(A;A)
Reference Rs1800451(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.54531226C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015425.22,



[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

[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 19139195OA-icon.png] Genetic polymorphisms of mannose-binding lectin do not influence placental malaria but are associated with preterm deliveries.

[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 22035380] Mannose-binding lectin and MBL-associated serine protease-2 gene polymorphisms in a Brazilian population from Rio de Janeiro.

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


GET Evidence
MBL2-G57E
aa_change Gly57Glu
aa_change_short G57E
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0916527
summary This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. The wild-type version of this gene is known as variant allele A, while this is called variant allele C. See R52C (variant D) and G54D (variant B).



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