{{Rsnum
|rsid=1800553
|Gene=ABCA4
|Chromosome=1
|position=94008251
|Orientation=plus
|GMAF=0.002296
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ABCA4
}}{{omim
|id=601691
|rsnum=1800553
|variant=0007
}}{{ClinVar
|rsid=1800553
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=94008251
|CHROM=1
|GMAF=0.0023
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050160000a05040516110110
|GENEINFO=ABCA4:24
|GENE_NAME=ABCA4
|GENE_ID=24
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.94008251C>T
|CLNSRC=ClinVar; Emory University; OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=NM_000350.2:c.5882G>A; 14173; 601691.0007; RISN-ABCR:c.5882G>A
|CLNSIG=255
|CLNCUI=C1855465; C1858806
|CLNDBN=MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO; Stargardt disease 1; Cone-rod dystrophy 3; not provided
|Disease=MACULAR DEGENERATION; Stargardt disease 1; Cone-rod dystrophy 3; not provided
|CLNACC=RCV000008339.1; RCV000008340.2; RCV000008341.2; RCV000078670.3
|Tags=RV;PM;SLO;NSM;REF;ASP;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM;NOC
|CAF=0.9977; 0.002296
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1855465:248200:ORPHA827; C1858806:604116:ORPHA1872
|COMMON=1
}}{{GET Evidence
|gene=ABCA4
|aa_change=Gly1961Glu
|aa_change_short=G1961E
|impact=pathogenic
|qualified_impact=High clinical importance, Likely pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs1800553
|overall_frequency_n=29
|overall_frequency_d=10758
|overall_frequency=0.00269567
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=5
|n_articles_annotated=5
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualityscore_treatability=2
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.995
|genetests_testable=Y
|nblosum100=6
|max_or_disease_name=Stargardt Disease, Autosomal Recessive
|max_or_case_pos=50
|max_or_case_neg=538
|max_or_control_pos=2
|max_or_control_neg=878
|max_or_or=40.799
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=2
|clinical_importance=1
|summary_short=This rare variant causes Stargardt Disease in a recessive manner. It was hypothesized to increase susceptibility to age-related macular degeneration, but subsequent studies have contradicted this hypothesis.
}}