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rs5030737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 1.1 carrier of mannose binding deficiency but of low clinical importance
(T;T) 1.6 mannose binding deficiency but of low clinical importance
ReferenceGRCh38 38.1/141
Chromosome10
Position52771482
GeneMBL2
is asnp
is mentioned by
dbSNPrs5030737
ebirs5030737
HLIrs5030737
Exacrs5030737
Varsomers5030737
Maprs5030737
PheGenIrs5030737
hapmaprs5030737
1000 genomesrs5030737
hgdprs5030737
ensemblrs5030737
gopubmedrs5030737
geneviewrs5030737
scholarrs5030737
googlers5030737
pharmgkbrs5030737
gwascentralrs5030737
openSNPrs5030737
23andMers5030737
23andMe allrs5030737
SNP Nexus

SNPshotrs5030737
SNPdbers5030737
MSV3drs5030737
GWAS Ctlgrs5030737
GMAF0.02847
Max Magnitude1.6
? (C;C) (C;T) (T;T) 28
OMIM154545
DescLECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2
Variant
Relatedalso
OMIM154545
Desc
Variant0003
Relatedalso


ClinVar
Risk rs5030737(T;T)
Alt rs5030737(T;T)
Reference rs5030737(C;C)
Significance Pathogenic
Disease Mannose-binding protein deficiency
Variation info
Gene MBL2
CLNDBN Mannose-binding protein deficiency
Reversed 1
HGVS NC_000010.10:g.54531242G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015426.26,



[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 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 20463618OA-icon.png] Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.


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


GET Evidence
MBL2-R52C
aa_change Arg52Cys
aa_change_short R52C
impact pathogenic
qualified_impact Low clinical importance, Likely pathogenic
overall_frequency 0.048615
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 D. See G54D (variant B) and G57E (variant C).



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