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1.

rs72646508 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:55052749 (GRCh38)
    1:55518422 (GRCh37)
    Canonical SPDI:
    NC_000001.11:55052748:C:T
    Gene:
    PCSK9 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,non_coding_transcript_variant
    Clinical significance:
    benign,likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000101/17 (ALFA)
    T=0.000193/48 (GnomAD_exomes)
    T=0.000261/31 (ExAC)
    T=0.000769/10 (GoESP)
    T=0.000799/4 (1000Genomes)
    T=0.000976/137 (GnomAD)
    T=0.001077/285 (TOPMED)
    T=0.001283/101 (PAGE_STUDY)
    HGVS:

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