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Items: 4

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:
    pathogenic,uncertain-significance,risk-factor
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.017301/1584 (ALFA)
    G=0.004968/391 (PAGE_STUDY)
    G=0.005192/26 (1000Genomes)
    G=0.00565/4 (HapMap)
    G=0.01091/1370 (TOPMED)
    G=0.01278/3212 (GnomAD_exomes)
    G=0.013109/7 (MGP)
    G=0.013158/4 (FINRISK)
    G=0.013363/1622 (ExAC)
    G=0.014485/455 (GnomAD)
    G=0.018682/72 (ALSPAC)
    G=0.019957/74 (TWINSUK)
    G=0.023884/107 (Estonian)
    G=0.028333/17 (NorthernSweden)
    G=0.03006/30 (GoNL)
    G=0.05/2 (GENOME_DK)
    A=0.5/1 (SGDP_PRJ)
    HGVS:
    2.

    rs386571803 has merged into 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:
      pathogenic,uncertain-significance,risk-factor
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.017301/1584 (ALFA)
      G=0.004968/391 (PAGE_STUDY)
      G=0.005192/26 (1000Genomes)
      G=0.00565/4 (HapMap)
      G=0.01091/1370 (TOPMED)
      G=0.01278/3212 (GnomAD_exomes)
      G=0.013109/7 (MGP)
      G=0.013158/4 (FINRISK)
      G=0.013363/1622 (ExAC)
      G=0.014485/455 (GnomAD)
      G=0.018682/72 (ALSPAC)
      G=0.019957/74 (TWINSUK)
      G=0.023884/107 (Estonian)
      G=0.028333/17 (NorthernSweden)
      G=0.03006/30 (GoNL)
      G=0.05/2 (GENOME_DK)
      A=0.5/1 (SGDP_PRJ)
      HGVS:
      3.

      rs52818902 has merged into 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:
        pathogenic,uncertain-significance,risk-factor
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.017301/1584 (ALFA)
        G=0.004968/391 (PAGE_STUDY)
        G=0.005192/26 (1000Genomes)
        G=0.00565/4 (HapMap)
        G=0.01091/1370 (TOPMED)
        G=0.01278/3212 (GnomAD_exomes)
        G=0.013109/7 (MGP)
        G=0.013158/4 (FINRISK)
        G=0.013363/1622 (ExAC)
        G=0.014485/455 (GnomAD)
        G=0.018682/72 (ALSPAC)
        G=0.019957/74 (TWINSUK)
        G=0.023884/107 (Estonian)
        G=0.028333/17 (NorthernSweden)
        G=0.03006/30 (GoNL)
        G=0.05/2 (GENOME_DK)
        A=0.5/1 (SGDP_PRJ)
        HGVS:
        4.

        rs17850737 has merged into 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:
          pathogenic,uncertain-significance,risk-factor
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.017301/1584 (ALFA)
          G=0.004968/391 (PAGE_STUDY)
          G=0.005192/26 (1000Genomes)
          G=0.00565/4 (HapMap)
          G=0.01091/1370 (TOPMED)
          G=0.01278/3212 (GnomAD_exomes)
          G=0.013109/7 (MGP)
          G=0.013158/4 (FINRISK)
          G=0.013363/1622 (ExAC)
          G=0.014485/455 (GnomAD)
          G=0.018682/72 (ALSPAC)
          G=0.019957/74 (TWINSUK)
          G=0.023884/107 (Estonian)
          G=0.028333/17 (NorthernSweden)
          G=0.03006/30 (GoNL)
          G=0.05/2 (GENOME_DK)
          A=0.5/1 (SGDP_PRJ)
          HGVS:

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