{{Rsnum
|rsid=1800451
|Gene=MBL2
|Chromosome=10
|position=52771466
|Orientation=plus
|GMAF=0.05464
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MBL2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 3.5 | 96.5
| HCB | 0.0 | 0.7 | 99.3
| JPT | 0.0 | 0.9 | 99.1
| YRI | 5.4 | 36.7 | 57.8
| ASW | 1.8 | 33.3 | 64.9
| CHB | 0.0 | 0.7 | 99.3
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 2.0 | 98.0
| LWK | 0.9 | 24.8 | 74.3
| MEX | 0.0 | 6.9 | 93.1
| MKK | 1.3 | 28.2 | 70.5
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|id=154545
|rsnum=1800451
|variant=0002
}}

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

{{ClinVar
|rsid=1800451
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=54531226
|CHROM=10
|GMAF=0.0545
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05016800000015051f110100
|GENEINFO=MBL2:4153
|GENE_NAME=MBL2
|GENE_ID=4153
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.54531226C>T
|CLNSRC=GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=GTR000509360; 154545.0002
|CLNSIG=5
|CLNCUI=C1835140
|CLNDBN=Mannose-binding protein deficiency
|Disease=Mannose-binding protein deficiency
|CLNACC=RCV000015425.20
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9454; 0.05464
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1835140:614372
|COMMON=1
}}

{{PMID|16385451|OA=1
}} A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

{{PMID|18396467|OA=1
}} Genetic variation and haplotype structures of innate immunity genes in eastern India.

{{PMID|18452612|OA=1
}} MBL2 and hepatitis C virus infection among injection drug users.

{{PMID|18936436|OA=1
}} Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

{{PMID|19139195|OA=1
}} Genetic polymorphisms of mannose-binding lectin do not influence placental malaria but are associated with preterm deliveries.

{{PMID|19366862|OA=1
}} Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy.

{{PMID|19432958|OA=1
}} Haplotype specific-sequencing reveals MBL2 association with asymptomatic Plasmodium falciparum infection.

{{PMID|20041166|OA=1
}} Common genetic variation and the control of HIV-1 in humans.

{{PMID|20042521|OA=1
}} Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome.

{{PMID|20196868|OA=1
}} Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.

{{PMID|20465856|OA=1
}} 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
|gene=MBL2
|aa_change=Gly57Glu
|aa_change_short=G57E
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs1800451
|overall_frequency_n=986
|overall_frequency_d=10758
|overall_frequency=0.0916527
|n_genomes=9
|n_genomes_annotated=0
|n_haplomes=10
|n_articles=5
|n_articles_annotated=5
|qualityscore_in_silico=5
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=1
|qualitycomment_severity=Y
|qualityscore_treatability=1
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.999
|genetests_testable=Y
|nblosum100=6
|max_or_disease_name=Mannose-Binding Lectin Deficiency
|max_or_case_pos=2
|max_or_case_neg=493
|max_or_control_pos=3
|max_or_control_neg=505
|max_or_or=0.683
|autoscore=4
|webscore=N
|n_web_uneval=8
|summary_short=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 Auto
|PMID=22848725
|Title=Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}