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1.

rs6657239 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    1:94098927 (GRCh38)
    1:94564483 (GRCh37)
    Canonical SPDI:
    NC_000001.11:94098926:C:A,NC_000001.11:94098926:C:T
    Gene:
    ABCA4 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Clinical significance:
    benign,likely-benign,uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.0364098/6891 (ALFA)
    T=0.025/1 (GENOME_DK)
    T=0.0250501/25 (GoNL)
    T=0.0277778/6 (Qatari)
    T=0.0316667/19 (NorthernSweden)
    T=0.0363636/12 (HapMap)
    T=0.0377049/23 (Vietnamese)
    T=0.0384017/148 (ALSPAC)
    T=0.0386127/54089 (GnomAD_exomes)
    T=0.0406858/4891 (ExAC)
    T=0.0409924/152 (TWINSUK)
    T=0.0464401/604 (GoESP)
    T=0.0476406/12610 (TOPMED)
    T=0.0477679/214 (Estonian)
    T=0.048806/7284 (GnomAD_genomes)
    T=0.0515303/330 (1000Genomes_30X)
    T=0.0533147/267 (1000Genomes)
    T=0.0561981/4422 (PAGE_STUDY)
    T=0.0582113/4508 (TOMMO)
    T=0.0620253/49 (PRJEB37584)
    T=0.0676856/124 (Korea1K)
    T=0.0678739/491 (Korea4K)
    T=0.0695364/21 (FINRISK)
    T=0.076779/41 (MGP)
    T=0.0773443/226 (KOREAN)
    C=0.375/3 (Siberian)
    C=0.4807692/25 (SGDP_PRJ)
    HGVS:

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