{{Rsnum
|rsid=1801581
|Gene=ABCA4
|Chromosome=1
|position=94047009
|Orientation=plus
|GMAF=0.01469
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ABCA4
}}{{omim
|id=601691
|rsnum=1801581
|variant=0035
}}

{{ClinVar
|rsid=1801581
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=94047009
|CHROM=1
|GMAF=0.0147
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050160000a0514051e110110
|GENEINFO=ABCA4:24
|GENE_NAME=ABCA4
|GENE_ID=24
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.94047009C>T
|CLNSRC=ClinVar; GeneDx; OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=NM_000350.2:c.2828G>A; 21116; 601691.0035; RISN-ABCR:c.2828G>A
|CLNSIG=255
|CLNCUI=C1855465
|CLNDBN=MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO; Stargardt disease 1; not provided
|Disease=MACULAR DEGENERATION; Stargardt disease 1; not provided
|CLNACC=RCV000008374.1; RCV000008375.1; RCV000085512.2
|Tags=RV;PM;SLO;NSM;REF;ASP;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM;NOC
|CAF=0.9853; 0.01469
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1855465:248200:ORPHA827
|COMMON=1
}}

{{GET Evidence
|gene=ABCA4
|aa_change=Arg943Gln
|aa_change_short=R943Q
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801581
|overall_frequency_n=340
|overall_frequency_d=10758
|overall_frequency=0.0316044
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=!
|qualitycomment_in_vitro=Y
|qualityscore_case_control=1
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.922
|genetests_testable=Y
|nblosum100=0
|autoscore=5
|webscore=N
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=0
|summary_short=This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}