{{Rsnum
|rsid=61750126
|Gene=ABCA4
|Chromosome=1
|position=94040048
|Orientation=plus
|GMAF=0.02066
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=ABCA4
}}{{omim
|id=601691
|rsnum=61750126
|variant=0025
}}

{{ClinVar
|rsid=61750126
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=94040048
|CHROM=1
|GMAF=0.0211
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050160000a05150416110110
|GENEINFO=ABCA4:24
|GENE_NAME=ABCA4
|GENE_ID=24
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.94040048A>C
|CLNSRC=ClinVar; OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=NM_000350.2:c.3602T>G; 601691.0025; RISN-ABCR:c.3602T>G
|CLNSIG=5
|CLNCUI=C1858806
|CLNDBN=Cone-rod dystrophy 3; not provided
|Disease=Cone-rod dystrophy 3; not provided
|CLNACC=RCV000008361.1; RCV000085583.1
|Tags=RV;PM;SLO;NSM;REF;ASP;VLD;G5;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM;NOC
|CAF=0.9793; 0.02066
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1858806:604116:ORPHA1872
|COMMON=1
}}

{{GET Evidence
|gene=ABCA4
|aa_change=Leu1201Arg
|aa_change_short=L1201R
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs61750126
|overall_frequency_n=351
|overall_frequency_d=10758
|overall_frequency=0.0326269
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=0
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=2
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.481
|genetests_testable=Y
|nblosum100=6
|max_or_disease_name=Stargardt Disease, Autosomal Recessive
|max_or_case_pos=1
|max_or_case_neg=150
|max_or_control_pos=0
|max_or_control_neg=220
|max_or_or=INF
|autoscore=4
|webscore=N
|n_web_uneval=8
|summary_short=There is weak evidence for this variant being associated with Stargardt disease.
}}

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