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  • The following terms were not found in SNP: NM_000237.3, c.1421C>G, NG_013007.1, g.7147G>A.
  • No items found.
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.

    rs1205 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:159712443 (GRCh38)
      1:159682233 (GRCh37)
      Canonical SPDI:
      NC_000001.11:159712442:C:T
      Gene:
      CRP (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.329653/32182 (ALFA)
      T=0.2463/233 (PharmGKB)
      T=0.276014/313 (Daghestan)
      T=0.308088/38686 (TOPMED)
      T=0.315339/9872 (GnomAD)
      T=0.325/13 (GENOME_DK)
      T=0.326653/326 (GoNL)
      T=0.326667/196 (NorthernSweden)
      T=0.328224/621 (HapMap)
      T=0.32823/1265 (ALSPAC)
      T=0.330906/1227 (TWINSUK)
      T=0.333333/72 (Qatari)
      T=0.334278/26307 (PAGE_STUDY)
      T=0.338259/1694 (1000Genomes)
      C=0.366667/121 (SGDP_PRJ)
      C=0.368421/14 (Siberian)
      C=0.373379/1094 (KOREAN)
      T=0.38683/1733 (Estonian)
      T=0.47619/100 (Vietnamese)
      HGVS:

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