{{Rsnum
|rsid=72550870
|Gene=MASP2
|Chromosome=1
|position=11046609
|Orientation=plus
|GMAF=0.01745
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MASP2
}}{{omim
|id=605102
|rsnum=72550870
|variant=0001
}}

{{ClinVar
|rsid=72550870
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=11046609
|CHROM=1
|GMAF=0.0174
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050368000a05140416110110
|GENEINFO=MASP2:10747
|GENE_NAME=MASP2
|GENE_ID=10747
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.11046609T>C
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_006610.3:c.359A>G; 605102.0001
|CLNSIG=5
|CLNCUI=C1854636
|CLNDBN=MASP2 deficiency
|Disease=MASP2 deficiency
|CLNACC=RCV000005520.1
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM;NOC
|CAF=0.9826; 0.01745
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C3151085:613791
|COMMON=1
}}

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

{{GET Evidence
|gene=MASP2
|aa_change=Asp120Gly
|aa_change_short=D120G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs72550870
|overall_frequency_n=216
|overall_frequency_d=10758
|overall_frequency=0.0200781
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|nblosum100=4
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23142462
|Title=A novel assay to quantitate MASP-2/ficolin-3 complexes in serum
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}