{{Rsnum
|rsid=3112831
|Gene=ABCA4
|Chromosome=1
|position=94078678
|Orientation=minus
|GMAF=0.247
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ABCA4
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 53.1 | 35.9 | 10.9
| HCB | 60.3 | 28.7 | 11.0
| JPT | 58.6 | 30.6 | 10.8
| YRI | 75.8 | 21.0 | 3.2
| ASW | 64.9 | 31.6 | 3.5
| CHB | 60.3 | 28.7 | 11.0
| CHD | 56.1 | 33.6 | 10.3
| GIH | 68.4 | 25.5 | 6.1
| LWK | 71.3 | 17.6 | 11.1
| MEX | 55.2 | 32.8 | 12.1
| MKK | 67.3 | 27.5 | 5.2
| TSI | 55.9 | 37.3 | 6.9
| HapMapRevision=28
}}{{PMID Auto
|PMID=21106043
|Title=Genetic association study of age-related macular degeneration in the Spanish population
}}

{{ClinVar
|rsid=3112831
|Reversed=1
|FwdREF=A
|FwdALT=C,G
|REF=T
|ALT=C,G
|RSPOS=94078678
|CHROM=1
|GMAF=0.2463
|dbSNPBuildID=103
|SSR=0
|SAO=0
|VP=0x050168000a05170517100101
|GENEINFO=ABCA4:24
|GENE_NAME=ABCA4
|GENE_ID=24
|WGT=1
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000001.11:g.94078678T>C; NC_000001.11:g.94078678T>G
|CLNSIG=2
|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;VLD;G5A;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.753; 0.247; .
|COMMON=1
|CLNACC=RCV000085383.2; RCV000085382.1
|CLNDBN=not provided
|CLNSRC=ClinVar; GeneDx; Retina International
|CLNSRCID=NM_000350.2:c.1268A>G; 20987; RISN-ABCR:c.1268A>G; NM_000350.2:c.1268A>C; RISN-ABCR:c.1268A>C
|Disease=not provided
|CLNORIGIN=1; 0
}}

{{PMID Auto
|PMID=18523590
|Title=Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.
|OA=1
}}

{{PMID Auto
|PMID=19430638
|Title=Host genetic and epigenetic factors in toxoplasmosis.
|OA=1
}}

{{GET Evidence
|gene=ABCA4
|aa_change=His423Arg
|aa_change_short=H423R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3112831
|overall_frequency_n=2778
|overall_frequency_d=10758
|overall_frequency=0.258226
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=25
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=1
|autoscore=2
|n_web_uneval=9
}}

{{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}}