{{Rsnum
|rsid=1800555
|Gene=ABCA4
|Chromosome=1
|position=93998061
|Orientation=plus
|GMAF=0.006887
|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 | 0.0 | 4.4 | 95.6
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 1.8 | 98.2
| CHB | 0.0 | 0.0 | 100.0
| 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
}}{{omim
|id=601691
|rsnum=1800555
|variant=0006
}}

{{ClinVar
|rsid=1800555
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=93998061
|CHROM=1
|GMAF=0.0069
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050160000a05040517110110
|GENEINFO=ABCA4:24
|GENE_NAME=ABCA4
|GENE_ID=24
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.93998061C>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;SLO;NSM;REF;ASP;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM;NOC
|CAF=0.9931; 0.006887
|CLNACC=RCV000008336.1; RCV000085827.1
|CLNDBN=MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO; not provided
|CLNSRC=ClinVar; OMIM Allelic Variant; Retina International
|CLNSRCID=NM_000350.2:c.6529G>A; 601691.0006; RISN-ABCR:c.6529G>A
|COMMON=1
|Disease=MACULAR DEGENERATION; not provided
}}

{{GET Evidence
|gene=ABCA4
|aa_change=Asp2177Asn
|aa_change_short=D2177N
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800555
|overall_frequency_n=96
|overall_frequency_d=10758
|overall_frequency=0.00892359
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.004
|genetests_testable=Y
|nblosum100=-1
|autoscore=3
|webscore=N
|n_web_uneval=10
}}

{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}