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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.

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
    Clinical significance:
    uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.327486/57758 (ALFA)
    T=0.2463/233 (PharmGKB)
    T=0.276014/313 (Daghestan)
    T=0.304617/80629 (TOPMED)
    T=0.304821/42667 (GnomAD)
    C=0.317738/5325 (TOMMO)
    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=0.334791/1677 (1000Genomes)
    C=0.366667/121 (SGDP_PRJ)
    C=0.368421/14 (Siberian)
    C=0.373379/1094 (KOREAN)
    T=0.38683/1733 (Estonian)
    C=0.454082/356 (PRJEB37584)
    T=0.47619/100 (Vietnamese)
    HGVS:
    2.

    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:
      coding_sequence_variant,stop_gained
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.099621/11450 (ALFA)
      G=0.066964/300 (Estonian)
      G=0.074074/16 (Qatari)
      G=0.074684/59 (PRJEB37584)
      G=0.07904/6220 (PAGE_STUDY)
      G=0.085/51 (NorthernSweden)
      G=0.087925/23273 (TOPMED)
      G=0.089338/12522 (GnomAD)
      G=0.091711/104 (Daghestan)
      G=0.092105/28 (FINRISK)
      G=0.092156/23148 (GnomAD_exomes)
      G=0.093501/11340 (ExAC)
      G=0.093535/468 (1000Genomes)
      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=0.129344/2168 (TOMMO)
      G=0.151685/81 (MGP)
      G=0.196078/20 (PRJEB36033)
      C=0.473684/36 (SGDP_PRJ)
      C=0.5/3 (Siberian)
      HGVS:

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