{{Rsnum
|rsid=12483377
|Gene=COL18A1
|Chromosome=21
|position=45511195
|Orientation=plus
|GMAF=0.0551
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=COL18A1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 9.8 | 89.3
| HCB | 0.0 | 5.1 | 94.9
| JPT | 0.0 | 0.9 | 99.1
| YRI | 0.0 | 3.4 | 96.6
| ASW | 0.0 | 10.5 | 89.5
| CHB | 0.0 | 5.1 | 94.9
| CHD | 0.0 | 1.8 | 98.2
| GIH | 0.0 | 7.9 | 92.1
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 15.5 | 84.5
| MKK | 0.0 | 9.0 | 91.0
| TSI | 1.0 | 16.7 | 82.4
| HapMapRevision=28
}}{{omim
|id=120328
|rsnum=12483377
|variant=0004
}}

{{ClinVar
|rsid=12483377
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=46931109
|CHROM=21
|GMAF=0.0549
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050368000000150517110100
|GENEINFO=COL18A1:80781
|GENE_NAME=COL18A1
|GENE_ID=80781
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.46931109G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120328.0004
|CLNSIG=5
|CLNCUI=C1849409
|CLNDBN=Knobloch syndrome 1
|Disease=Knobloch syndrome 1
|CLNACC=RCV000018655.26
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9449; 0.0551
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1849409:267750:1571
|COMMON=1
}}

{{PMID|18805939|OA=1
}} Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

{{PMID|19493349|OA=1
}} 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

{{PMID|19961619|OA=1
}} A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).

{{GET Evidence
|gene=COL18A1
|aa_change=Asp1440Asn
|aa_change_short=D1440N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12483377
|overall_frequency_n=7
|overall_frequency_d=128
|overall_frequency=0.0546875
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-1
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}