{{Rsnum
|rsid=9332739
|Gene=C2
|Chromosome=6
|position=31936027
|Orientation=plus
|GMAF=0.0303
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=C2,LOC102060414
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 1.5 | 9.2 | 89.2
| HCB | 0.0 | 11.1 | 88.9
| JPT | 0.0 | 4.5 | 95.5
| YRI | 0.0 | 4.8 | 95.2
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 11.1 | 88.9
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}[[age related macular degeneration]] {{PMID|16518403|OA=1
}}

{{PMID Auto
|PMID=19399715
|Title=Impact of interacting functional variants in COMT on regional gray matter volume in human brain
}}

{{omim
|id=217000
|desc=COMPLEMENT COMPONENT 2 DEFICIENCY
|rsnum=9332739
}}
{{PMID Auto
|PMID=19556007
|Title=Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology
}}

{{omim
|id=217000
|rsnum=9332739
|variant=0004
}}

{{PMID Auto GWAS
|PMID=21665990
|Trait=None
|Title=Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|RiskAllele=
|Pval=2E-23
|OR=2.1700
|ORtxt=[NR]
|OA=1
}}

{{PMID Auto
|PMID=22440158
|Title=CFB/C2 Gene Polymorphisms and Risk of Age-Related Macular Degeneration: A Systematic Review and Meta-Analysis
}}

{{PMID Auto
|PMID=22699975
|Title=Genetic analysis of simultaneous geographic atrophy and choroidal neovascularization
|OA=1
}}

{{ClinVar
|rsid=9332739
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=31903804
|CHROM=6
|GMAF=0.0302
|dbSNPBuildID=119
|SSR=0
|SAO=1
|VP=0x050368000000150517130100
|GENEINFO=C2:717
|GENE_NAME=C2
|GENE_ID=717
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.31903804G>C
|CLNORIGIN=1
|CLNSIG=5
|CLNCUI=217000
|CLNDBN=Age-related macular degeneration 14
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.9697; 0.0303
|CLNACC=RCV000012913.3
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=CN180565:615489
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=613927.0004
|COMMON=1
|Disease=Age-related macular degeneration 14
}}

{{PMID|17917691|OA=1
}} Genetic markers and biomarkers for age-related macular degeneration.

{{PMID|18493315|OA=1
}} C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

{{PMID|18806293}} Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD).

{{PMID|19169232}} Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.

{{PMID|19259132|OA=1
}} Multilocus analysis of age-related macular degeneration.

{{PMID|19661236|OA=1
}} Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.

{{PMID|20157618|OA=1
}} Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.

{{PMID|21402993}} Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.

{{PMID|22273503}} Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.

{{PMID Auto GWAS
|PMID=22705344
|Trait=None
|Title=Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-Related Macular Degeneration Subtypes.
|RiskAllele=
|Pval=2E-8
|OR=2.0800
|ORtxt=None
|OA=1
}}

{{GET Evidence
|gene=C2
|aa_change=Glu318Asp
|aa_change_short=E318D
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs9332739
|overall_frequency_n=6
|overall_frequency_d=128
|overall_frequency=0.046875
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=0
|n_articles_annotated=0
|in_omim=Y
|nblosum100=-2
|autoscore=3
|webscore=N
}}

{{PMID Auto
|PMID=23313922
|Title=Complement gene single nucleotide polymorphisms and biomarker endophenotypes of Alzheimer's disease
}}

{{PMID Auto
|PMID=23233260
|Title=Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}