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Items: 4

1.

rs328 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    8:19962213 (GRCh38)
    8:19819724 (GRCh37)
    Canonical SPDI:
    NC_000008.11:19962212:C:A,NC_000008.11:19962212:C:G
    Gene:
    LPL (Varview)
    Functional Consequence:
    stop_gained,coding_sequence_variant
    Clinical significance:
    benign,likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.103615/1158 (ALFA)
    G=0.066964/300 (Estonian)
    G=0.074074/16 (Qatari)
    G=0.07904/6220 (PAGE_STUDY)
    G=0.085/51 (NorthernSweden)
    G=0.086979/2728 (GnomAD)
    G=0.089712/11265 (TOPMED)
    G=0.091711/104 (Daghestan)
    G=0.092105/28 (FINRISK)
    G=0.092156/23148 (GnomAD_exomes)
    G=0.092452/463 (1000Genomes)
    G=0.093501/11340 (ExAC)
    G=0.097561/32 (HapMap)
    G=0.1/4 (GENOME_DK)
    G=0.106642/411 (ALSPAC)
    G=0.107875/400 (TWINSUK)
    G=0.118236/118 (GoNL)
    G=0.120819/354 (KOREAN)
    G=0.127036/78 (Vietnamese)
    G=0.151685/81 (MGP)
    C=0.473684/36 (SGDP_PRJ)
    C=0.5/3 (Siberian)
    HGVS:
    2.

    rs52834251 has merged into rs328 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G [Show Flanks]
      Chromosome:
      8:19962213 (GRCh38)
      8:19819724 (GRCh37)
      Canonical SPDI:
      NC_000008.11:19962212:C:A,NC_000008.11:19962212:C:G
      Gene:
      LPL (Varview)
      Functional Consequence:
      stop_gained,coding_sequence_variant
      Clinical significance:
      benign,likely-benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.103615/1158 (ALFA)
      G=0.066964/300 (Estonian)
      G=0.074074/16 (Qatari)
      G=0.07904/6220 (PAGE_STUDY)
      G=0.085/51 (NorthernSweden)
      G=0.086979/2728 (GnomAD)
      G=0.089712/11265 (TOPMED)
      G=0.091711/104 (Daghestan)
      G=0.092105/28 (FINRISK)
      G=0.092156/23148 (GnomAD_exomes)
      G=0.092452/463 (1000Genomes)
      G=0.093501/11340 (ExAC)
      G=0.097561/32 (HapMap)
      G=0.1/4 (GENOME_DK)
      G=0.106642/411 (ALSPAC)
      G=0.107875/400 (TWINSUK)
      G=0.118236/118 (GoNL)
      G=0.120819/354 (KOREAN)
      G=0.127036/78 (Vietnamese)
      G=0.151685/81 (MGP)
      C=0.473684/36 (SGDP_PRJ)
      C=0.5/3 (Siberian)
      HGVS:
      3.

      rs17482566 has merged into rs328 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        8:19962213 (GRCh38)
        8:19819724 (GRCh37)
        Canonical SPDI:
        NC_000008.11:19962212:C:A,NC_000008.11:19962212:C:G
        Gene:
        LPL (Varview)
        Functional Consequence:
        stop_gained,coding_sequence_variant
        Clinical significance:
        benign,likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.103615/1158 (ALFA)
        G=0.066964/300 (Estonian)
        G=0.074074/16 (Qatari)
        G=0.07904/6220 (PAGE_STUDY)
        G=0.085/51 (NorthernSweden)
        G=0.086979/2728 (GnomAD)
        G=0.089712/11265 (TOPMED)
        G=0.091711/104 (Daghestan)
        G=0.092105/28 (FINRISK)
        G=0.092156/23148 (GnomAD_exomes)
        G=0.092452/463 (1000Genomes)
        G=0.093501/11340 (ExAC)
        G=0.097561/32 (HapMap)
        G=0.1/4 (GENOME_DK)
        G=0.106642/411 (ALSPAC)
        G=0.107875/400 (TWINSUK)
        G=0.118236/118 (GoNL)
        G=0.120819/354 (KOREAN)
        G=0.127036/78 (Vietnamese)
        G=0.151685/81 (MGP)
        C=0.473684/36 (SGDP_PRJ)
        C=0.5/3 (Siberian)
        HGVS:
        4.

        rs3735962 has merged into rs328 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G [Show Flanks]
          Chromosome:
          8:19962213 (GRCh38)
          8:19819724 (GRCh37)
          Canonical SPDI:
          NC_000008.11:19962212:C:A,NC_000008.11:19962212:C:G
          Gene:
          LPL (Varview)
          Functional Consequence:
          stop_gained,coding_sequence_variant
          Clinical significance:
          benign,likely-benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.103615/1158 (ALFA)
          G=0.066964/300 (Estonian)
          G=0.074074/16 (Qatari)
          G=0.07904/6220 (PAGE_STUDY)
          G=0.085/51 (NorthernSweden)
          G=0.086979/2728 (GnomAD)
          G=0.089712/11265 (TOPMED)
          G=0.091711/104 (Daghestan)
          G=0.092105/28 (FINRISK)
          G=0.092156/23148 (GnomAD_exomes)
          G=0.092452/463 (1000Genomes)
          G=0.093501/11340 (ExAC)
          G=0.097561/32 (HapMap)
          G=0.1/4 (GENOME_DK)
          G=0.106642/411 (ALSPAC)
          G=0.107875/400 (TWINSUK)
          G=0.118236/118 (GoNL)
          G=0.120819/354 (KOREAN)
          G=0.127036/78 (Vietnamese)
          G=0.151685/81 (MGP)
          C=0.473684/36 (SGDP_PRJ)
          C=0.5/3 (Siberian)
          HGVS:

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