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1.

rs268 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    8:19956018 (GRCh38)
    8:19813529 (GRCh37)
    Canonical SPDI:
    NC_000008.11:19956017:A:G
    Gene:
    LPL (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Clinical significance:
    uncertain-significance,benign,conflicting-interpretations-of-pathogenicity,no-classifications-from-unflagged-records,benign-likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.0161482/3797 (ALFA)
    G=0.0000129/1 (TOMMO)
    G=0.0046846/30 (1000Genomes_30X)
    G=0.0049685/391 (PAGE_STUDY)
    G=0.0051917/26 (1000Genomes)
    G=0.0056497/4 (HapMap)
    G=0.0110431/2923 (TOPMED)
    G=0.0128526/1919 (GnomAD_genomes)
    G=0.0131086/7 (MGP)
    G=0.0131579/4 (FINRISK)
    G=0.0133632/1622 (ExAC)
    G=0.0161543/22640 (GnomAD_exomes)
    G=0.0186819/72 (ALSPAC)
    G=0.0199569/74 (TWINSUK)
    G=0.0238839/107 (Estonian)
    G=0.0283333/17 (NorthernSweden)
    G=0.0285714/2 (PRJEB36033)
    G=0.0300601/30 (GoNL)
    G=0.05/2 (GENOME_DK)
    A=0.5/1 (SGDP_PRJ)
    HGVS:

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